Canonical Allele Identifier: CA3981712
Gene: GJA1 HGNC NCBI

Linked Data

ClinVar Variation Id: 372744
dbSNP Id: rs750294638

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