Canonical Allele Identifier: CA127019

Gene: GJA1

Linked Data

• ClinVar Variation Id: 16996
• ClinVar RCV Id: RCV000018519
• dbSNP Id: rs267606844
• ExAC: 6:121768220 G / A
• gnomAD v2: 6-121768220-G-A
• gnomAD v3: 6-121447074-G-A
• gnomAD v4: 6-121447074-G-A
• MyVariant Identifiers: chr6:g.121768220G>A (hg19) ; chr6:g.121447074G>A (hg38)
• PubMed: PMID:14974090 ; PMID:14981729

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.121447074G>A , CM000668.2:g.121447074G>A	GRCh38
NC_000006.11:g.121768220G>A , CM000668.1:g.121768220G>A	GRCh37
NC_000006.10:g.121809919G>A	NCBI36
NG_008308.1:g.16476G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000282561.4:c.227G>A MANE Select	ENSP00000282561.3:p.Arg76His
ENST00000647564.1:c.227G>A	ENSP00000497565.1:p.Arg76His
ENST00000649003.1:c.227G>A	ENSP00000497283.1:p.Arg76His
ENST00000650427.1:c.227G>A	ENSP00000497367.1:p.Arg76His
ENST00000282561.3:c.227G>A	ENSP00000282561.3:p.Arg76His
NM_000165.4:c.227G>A	NP_000156.1:p.Arg76His
NM_000165.5:c.227G>A MANE Select	NP_000156.1:p.Arg76His