Canonical Allele Identifier: CA3981829

Gene: GJA1

Linked Data

• ClinVar Variation Id: 355163
• ClinVar RCV Id: RCV000827825 ; RCV001088161
• dbSNP Id: rs145215218
• ExAC: 6:121769121 G / A
• gnomAD v2: 6-121769121-G-A
• gnomAD v3: 6-121447975-G-A
• gnomAD v4: 6-121447975-G-A
• MyVariant Identifiers: chr6:g.121769121G>A (hg19) ; chr6:g.121447975G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.121447975G>A , CM000668.2:g.121447975G>A	GRCh38
NC_000006.11:g.121769121G>A , CM000668.1:g.121769121G>A	GRCh37
NC_000006.10:g.121810820G>A	NCBI36
NG_008308.1:g.17377G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000282561.4:c.1128G>A MANE Select	ENSP00000282561.3:p.Arg376=
ENST00000647564.1:c.1128G>A	ENSP00000497565.1:p.Arg376=
ENST00000649003.1:c.1128G>A	ENSP00000497283.1:p.Arg376=
ENST00000650427.1:c.1128G>A	ENSP00000497367.1:p.Arg376=
ENST00000282561.3:c.1128G>A	ENSP00000282561.3:p.Arg376=
NM_000165.4:c.1128G>A	NP_000156.1:p.Arg376=
NM_000165.5:c.1128G>A MANE Select	NP_000156.1:p.Arg376=