ENST00000305286.8 EFCAB3

Information
Transcript ID
ENST00000305286.8
Genome
hg19
Position
chr17:60,457,914-60,493,841
Strand
+
CDS length
1,317
Amino acid length
439
Gene symbol
EFCAB3
Gene type
protein-coding
Gene description
EF-hand calcium binding domain 3
Gene Entrez Gene ID
146779
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
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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
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Target data :
MGeND data only
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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
1 60,457,914 60,457,974
2 60,460,324 60,460,414
3 60,464,701 60,464,777
4 60,469,183 60,469,326
5 60,470,934 60,471,005
6 60,472,429 60,472,549
7 60,483,841 60,484,034
8 60,484,389 60,484,573
9 60,491,093 60,491,215
10 60,493,364 60,493,841
CDS
Exon number Type Start Stop
2 CDS 60,460,341 60,460,414
3 CDS 60,464,701 60,464,777
4 CDS 60,469,183 60,469,326
5 CDS 60,470,934 60,471,005
6 CDS 60,472,429 60,472,549
7 CDS 60,483,841 60,484,034
8 CDS 60,484,389 60,484,573
9 CDS 60,491,093 60,491,215
10 CDS 60,493,364 60,493,690
Other genome
Genome Chromosome Start End Links
hg38 chr17 62,380,553 62,416,480 Link
CDS sequence
ATGGCAGTTTCAGAAATTAAACCAAAACTTAAGCTGAATCCTCTAACAAAAGTACCCATCTCCCACAATAAAAGGGATAGAGACTTACCAGGATCTCTTCAATGCCAATTACAACACAAAGAAAAGAAGCTAAGTGCTTCACAAATGGCAGCTTTCCAAGATGCCTACAACTTCTTCTACAAGGACAAAACTGGCTGTATTGATTTCCATGGACTGATGTGCACTGTAGCTAAGCTGGGAATGAATCTGACCAAGCATGATGTCTATAATGAATTGAAATGTGCTGATATTGATCGAGATGGGAAGGTGAACTTCTCAGACTTTATCAAGGTTCTAACAGATAAGAATCTCTTCCTCAAGGCAGTGGTTCCAGAAAAGGAGACCTGTTTAGATTTGGCTGGCAACCCAGGAATCCTATTGTTTGAAATCCTATCAAGGCTTCTAGAGACTTCAGCCCTACCCAGAAAGTCTATAATAGAAATAGTAAGCTATTTCCAAAGAAAATTCCAGCATACTGGCCCAGGAATGTTGTGGAGTCCCTACACTATGGGCTATGGAAAAAGGACACTTAAGCCAGACATATGCACACCTCCAAGCTCAAGCATGGCTGCCTTTGCTAATGCTGCCCGGATTGCAATAATGAAAGAAAAGGATTTATTTAAATTTCTTGAAGAGCTCAAGAGATGCAATTCCGGTTCAGATAGCCCATATTCAAAAATACCCATCTTTCCATTGTTCCCTAATGTGGATGGGGTGGTGATGGGAAAGCCATTCAAAGACATGCAGAAATTAGAGATGCTAAGAATAAAGGAGCCTTTGCATTTCTTTGAGGATTATTTTTTCCATAAAAGAGACTGGAAAACACAGGCAGCAAATATAAAGTCTATGGACCCTGCCTCAGGTTATTCAAATAACATCTTCACCATTGATCAAATGCTCAAGAAAAAGCAGACTTGTACAGTGGCCGATGCAACTGCTATTAAACAACATGTGAAGAGAGCTACTGATACCTATAATTTAGGAATTGCCCTTGAACACCGAAAAGAGATGCTAAACCTCTGGCAGAAGATCCGAGGGGATTTGATTGGGATGGACTCTAGAAATGAGTCCTTTTATGACACCTTTTCTACTTATACATGGTCCTGGAATGTTTGCCAAGAATTACTTTCTCCTAAGGACTTAAGGTTATATGATGCCTATGTGAATAGAAATTCCTCCCATAACTCCAGATCCTCTTCCTCATCAGATACCAGTGAATGTTACACAGACTCAGGAAGAAAAAGAAAACGGAAAGGTTTAAAGGGATTTCAACAATGA
Amino sequence
MAVSEIKPKLKLNPLTKVPISHNKRDRDLPGSLQCQLQHKEKKLSASQMAAFQDAYNFFYKDKTGCIDFHGLMCTVAKLGMNLTKHDVYNELKCADIDRDGKVNFSDFIKVLTDKNLFLKAVVPEKETCLDLAGNPGILLFEILSRLLETSALPRKSIIEIVSYFQRKFQHTGPGMLWSPYTMGYGKRTLKPDICTPPSSSMAAFANAARIAIMKEKDLFKFLEELKRCNSGSDSPYSKIPIFPLFPNVDGVVMGKPFKDMQKLEMLRIKEPLHFFEDYFFHKRDWKTQAANIKSMDPASGYSNNIFTIDQMLKKKQTCTVADATAIKQHVKRATDTYNLGIALEHRKEMLNLWQKIRGDLIGMDSRNESFYDTFSTYTWSWNVCQELLSPKDLRLYDAYVNRNSSHNSRSSSSSDTSECYTDSGRKRKRKGLKGFQQ*