ENST00000590758.3 GJC1

Information
Transcript ID
ENST00000590758.3
Genome
hg38
Position
chr17:44,798,448-44,830,813
Strand
-
CDS length
1,191
Amino acid length
397
Gene symbol
GJC1
Gene type
protein-coding
Gene description
gap junction protein gamma 1
Gene Entrez Gene ID
10052
Variants

Display target variant


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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
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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
2 44,798,448 44,805,837
1 44,830,638 44,830,813
CDS
Exon number Type Start Stop
2 CDS 44,804,627 44,805,817
Other genome
Genome Chromosome Start End Links
hg19 chr17 42,875,816 42,908,181 Link
CDS sequence
ATGAGTTGGAGCTTCCTGACTCGCCTGCTAGAGGAGATTCACAACCATTCCACATTTGTGGGGAAGATCTGGCTCACTGTTCTGATTGTCTTCCGGATCGTCCTTACAGCTGTAGGAGGAGAATCCATCTATTACGATGAGCAAAGCAAATTTGTGTGCAACACAGAACAGCCGGGCTGTGAGAATGTCTGTTATGATGCGTTTGCACCTCTCTCCCATGTACGCTTCTGGGTGTTCCAGATCATCCTGGTGGCAACTCCCTCTGTGATGTACCTGGGCTATGCTATCCACAAGATTGCCAAAATGGAGCACGGTGAAGCAGACAAGAAGGCAGCTCGGAGCAAGCCCTATGCAATGCGCTGGAAACAACACCGGGCTCTGGAAGAAACGGAGGAGGACAACGAAGAGGATCCTATGATGTATCCAGAGATGGAGTTAGAAAGTGATAAGGAAAATAAAGAGCAGAGCCAACCCAAACCTAAGCATGATGGCCGACGACGGATTCGGGAAGATGGGCTCATGAAAATCTATGTGCTGCAGTTGCTGGCAAGGACCGTGTTTGAGGTGGGTTTTCTGATAGGGCAGTATTTTCTGTATGGCTTCCAAGTCCACCCGTTTTATGTGTGCAGCAGACTTCCTTGTCCTCATAAGATAGACTGCTTTATTTCTAGACCCACTGAAAAGACCATCTTCCTTCTGATAATGTATGGTGTTACAGGCCTTTGCCTCTTGCTTAACATTTGGGAGATGCTTCATTTAGGGTTTGGGACCATTCGAGACTCACTAAACAGTAAAAGGAGGGAACTTGAGGATCCGGGTGCTTATAATTATCCTTTCACTTGGAATACACCATCTGCTCCCCCTGGCTATAACATTGCTGTCAAACCAGATCAAATCCAGTACACCGAACTGTCCAATGCTAAGATCGCCTACAAGCAAAACAAGGCCAACACAGCCCAGGAACAGCAGTATGGCAGCCATGAGGAGAACCTCCCAGCTGACCTGGAGGCTCTGCAGCGGGAGATCAGGATGGCTCAGGAACGCTTGGATCTGGCAGTTCAGGCCTACAGTCACCAAAACAACCCTCATGGTCCCCGGGAGAAGAAGGCCAAAGTGGGGTCCAAAGCTGGGTCCAACAAAAGCACTGCCAGTAGCAAATCAGGGGATGGGAAGACCTCCGTCTGGATTTAA
Amino sequence
MSWSFLTRLLEEIHNHSTFVGKIWLTVLIVFRIVLTAVGGESIYYDEQSKFVCNTEQPGCENVCYDAFAPLSHVRFWVFQIILVATPSVMYLGYAIHKIAKMEHGEADKKAARSKPYAMRWKQHRALEETEEDNEEDPMMYPEMELESDKENKEQSQPKPKHDGRRRIREDGLMKIYVLQLLARTVFEVGFLIGQYFLYGFQVHPFYVCSRLPCPHKIDCFISRPTEKTIFLLIMYGVTGLCLLLNIWEMLHLGFGTIRDSLNSKRRELEDPGAYNYPFTWNTPSAPPGYNIAVKPDQIQYTELSNAKIAYKQNKANTAQEQQYGSHEENLPADLEALQREIRMAQERLDLAVQAYSHQNNPHGPREKKAKVGSKAGSNKSTASSKSGDGKTSVWI*