Canonical Allele Identifier: CA365559006
Gene: GJA1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1034095
ClinVar RCV Id: RCV001336706
dbSNP Id: rs1773904110
MyVariant Identifiers: chr6:g.121768426G>A (hg19) chr6:g.121447280G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.121447280G>A , CM000668.2:g.121447280G>A GRCh38
NC_000006.11:g.121768426G>A , CM000668.1:g.121768426G>A GRCh37
NC_000006.10:g.121810125G>A NCBI36
NG_008308.1:g.16682G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000282561.4:c.433G>A MANE Select ENSP00000282561.3:p.Val145Met
ENST00000647564.1:c.433G>A ENSP00000497565.1:p.Val145Met
ENST00000649003.1:c.433G>A ENSP00000497283.1:p.Val145Met
ENST00000650427.1:c.433G>A ENSP00000497367.1:p.Val145Met
ENST00000282561.3:c.433G>A ENSP00000282561.3:p.Val145Met
NM_000165.4:c.433G>A NP_000156.1:p.Val145Met
NM_000165.5:c.433G>A MANE Select NP_000156.1:p.Val145Met
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