ENST00000407122.5 CLHC1

Information
Transcript ID
ENST00000407122.5
Genome
hg38
Position
chr2:55,175,649-55,232,158
Strand
-
CDS length
1,761
Amino acid length
587
Gene symbol
CLHC1
Gene type
protein-coding
Gene description
clathrin heavy chain linker domain containing 1
Gene Entrez Gene ID
130162
Variants

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Target data :
MGeND data only
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Variant name Gene AA change CDS Japanese
frequency		 TogoVar MGeND Genome ClinVar CIViC evidence DisGeNET entry COSMIC
occurrence		 Prediction
Entry Origin Type Annotation Entry Origin Annotation
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Target data :
MGeND data only
Category :
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Name MGeND Type Genome Size Chromosome Start Stop Ref Alt ClinVar Origin Entry CIViC evidence DisGeNET entry
Entry Origin Type Annotation
Search Word
Target data :
MGeND data only
Category :
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Name MGeND Type Genome Gene symbol Chromosome Genomic start Genomic stop Strand Ref Alt ClinVar Origin Entry CIViC evidence DisGeNET entry
Entry Origin Type Annotation
Exon
Exon number Start Stop
12 55,175,649 55,175,986
11 55,177,602 55,177,781
10 55,180,510 55,180,712
9 55,181,570 55,181,744
8 55,206,270 55,206,376
7 55,208,626 55,208,710
6 55,209,404 55,209,516
5 55,209,630 55,209,831
4 55,212,673 55,212,806
3 55,217,811 55,217,998
2 55,222,235 55,222,493
1 55,232,004 55,232,158
CDS
Exon number Type Start Stop
12 CDS 55,175,790 55,175,986
11 CDS 55,177,602 55,177,781
10 CDS 55,180,510 55,180,712
9 CDS 55,181,570 55,181,744
8 CDS 55,206,270 55,206,376
7 CDS 55,208,626 55,208,710
6 CDS 55,209,404 55,209,516
5 CDS 55,209,630 55,209,831
4 CDS 55,212,673 55,212,806
3 CDS 55,217,811 55,217,998
2 CDS 55,222,235 55,222,411
Other genome
Genome Chromosome Start End Links
hg19 chr2 55,402,785 55,459,294 Link
CDS sequence
ATGTCAGTTCATCAAATAAGAAAACATGCAGTTCTCCCACCTATCATTTGTAGAAGTGACAAGGAATTTTTGGAAAGTGTGCAAAGATACATAATTACAGAAACTGAAAGACTGGGCTGTAGTGAGGAAGGACCTGCTGATGAATATTACATCATATACCGAAATGTTTTTGATAAGGTAATAGAGCATATCACTGCATACAAATCCATTCTTACTTCAATCAAAAAAGAATATGATGCCTTTATTGAGACAATAAAGAAAGACCGAAGAACTACATTTTGTCTTCATGGAAAACTTAAAGGTTTGGCAGCAGAGCCTACAGCTTTGGTATATTACAGGAAAAGAACAATCCAACTTGAAGCAAAAATGAGGATTATCGAAAGTAATTCCTCGAAGATTCAATCTCAAATAGATCACATCAAGCAGTGTAGGGCAGAGTATGACACAAAAGAAGTAAAATATTGTACTTTCTCCAAAGATCCTTCAAAACCTATTCCAGGCATGACTCTTCAAGAATCCATGAATCTAGATGCTCTCACTAAATACATGAAACATCTTGAAGATAAATATGCAGAAATTAAACAAGCTATGTTGATAAAATATGTGCCAGCTCAGAGGAAGGCTGATTTAGATGAAGAAATGATTGTGTTATTAAAACGGCGAGATGTAGCTGAAAATCTGAACAAAAAATTGCAGTTTTGTCATCAAAGACTGCAGATAATTTCACAGGCACTTAGTTCATGGGTAAAATCTGATATGAGCAGCCCATTTCAAGACTTTGTGGAGCAAATTCAGAAAACCAAATATTTACAAGGTGACCAAGGCATTGTTGAAGAACTAATGGAAGATGATCCACGCAGGGCAAAAGAAGCTGAAATTATGCTTCACTACATTGAAAGGTTTAATGAGTTAATCTCACTTGGTGAATATGAAAAGGCAGCTTGTTATGCAGCAAACAGTCCTAGAAGAATTCTTCGAAACATTGGTACAATGAATACATTTAAGGCTGTTGGAAAAATTAGAGGAAAGCCTCTTCCATTACTCTTATTTTTTGAGGCCCTCTTTATCACAAGTCATGCTTTTCCATGTCCTGTTGATGCAGCTCTAACCCTGGAAGGAATCAAATGTGGATTATCAGAAAAACGGTTAGATTTAGTTACCAATTGGGTTACACAGGAAAGACTGACATTTTCTGAGGAGGCTGGGGATGTGATTTGTGATTATGGGGAGCAGGATACTTATAACAAGGCCAAGTGCCTGGCTTTAGCTCAGATTGTCTACAGTGAATGTGGCCTGCACAAGAAAGCTATTCTTTGCTTGTGTAAACAGGGTCAGACTCATAGGGTCATGGAGTACATACAGCAGTTGAAGGACTTTACTACCGATGACCTGTTGCAGCTATTAATGTCATGTCCCCAAGTTGAATTAATTCAGTGTCTCACTAAAGAGTTGAATGAGAAACAACCATCTTTATCTTTTGGTCTTGCTATACTTCATCTGTTCTCTGCAGACATGAAAAAAGTTGGCATTAAGCTACTTCAAGAAATCAATAAAGGTGGGATAGATGCAGTAGAAAGTCTTATGATAAATGATTCCTTTTGCTCCATAGAAAAGTGGCAAGAAGTGGCAAATATATGTTCACAGAATGGCTTTGACAAATTATCTAATGACATCACGTCTATTCTTCGATCTCAGGCTGCAGTTACAGAAATTTCTGAAGAGGATGACGCAGTCAACCTAATGGAACATGTGTTTTGGTAG
Amino sequence
MSVHQIRKHAVLPPIICRSDKEFLESVQRYIITETERLGCSEEGPADEYYIIYRNVFDKVIEHITAYKSILTSIKKEYDAFIETIKKDRRTTFCLHGKLKGLAAEPTALVYYRKRTIQLEAKMRIIESNSSKIQSQIDHIKQCRAEYDTKEVKYCTFSKDPSKPIPGMTLQESMNLDALTKYMKHLEDKYAEIKQAMLIKYVPAQRKADLDEEMIVLLKRRDVAENLNKKLQFCHQRLQIISQALSSWVKSDMSSPFQDFVEQIQKTKYLQGDQGIVEELMEDDPRRAKEAEIMLHYIERFNELISLGEYEKAACYAANSPRRILRNIGTMNTFKAVGKIRGKPLPLLLFFEALFITSHAFPCPVDAALTLEGIKCGLSEKRLDLVTNWVTQERLTFSEEAGDVICDYGEQDTYNKAKCLALAQIVYSECGLHKKAILCLCKQGQTHRVMEYIQQLKDFTTDDLLQLLMSCPQVELIQCLTKELNEKQPSLSFGLAILHLFSADMKKVGIKLLQEINKGGIDAVESLMINDSFCSIEKWQEVANICSQNGFDKLSNDITSILRSQAAVTEISEEDDAVNLMEHVFW*