Canonical Allele Identifier: CA3981712
Gene: GJA1 HGNC NCBI

Linked Data

ClinVar Variation Id: 372744
ClinVar RCV Id: RCV003223401
dbSNP Id: rs750294638
ExAC: 6:121768598 G / A
gnomAD v2: 6-121768598-G-A
gnomAD v4: 6-121447452-G-A
COSMIC: COSM3857954
MyVariant Identifiers: chr6:g.121768598G>A (hg19) chr6:g.121447452G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.121447452G>A , CM000668.2:g.121447452G>A GRCh38
NC_000006.11:g.121768598G>A , CM000668.1:g.121768598G>A GRCh37
NC_000006.10:g.121810297G>A NCBI36
NG_008308.1:g.16854G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000282561.4:c.605G>A MANE Select ENSP00000282561.3:p.Arg202His
ENST00000647564.1:c.605G>A ENSP00000497565.1:p.Arg202His
ENST00000649003.1:c.605G>A ENSP00000497283.1:p.Arg202His
ENST00000650427.1:c.605G>A ENSP00000497367.1:p.Arg202His
ENST00000282561.3:c.605G>A ENSP00000282561.3:p.Arg202His
NM_000165.4:c.605G>A NP_000156.1:p.Arg202His
NM_000165.5:c.605G>A MANE Select NP_000156.1:p.Arg202His
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