Canonical Allele Identifier: CA3981689

Gene: GJA1

Linked Data

• ClinVar Variation Id: 355160
• ClinVar RCV Id: RCV000282479 ; RCV000349696 ; RCV000372243 ; RCV000842194 ; RCV001429544
• dbSNP Id: rs72548741
• ExAC: 6:121768449 G / A
• gnomAD v2: 6-121768449-G-A
• gnomAD v3: 6-121447303-G-A
• gnomAD v4: 6-121447303-G-A
• MyVariant Identifiers: chr6:g.121768449G>A (hg19) ; chr6:g.121447303G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.121447303G>A , CM000668.2:g.121447303G>A	GRCh38
NC_000006.11:g.121768449G>A , CM000668.1:g.121768449G>A	GRCh37
NC_000006.10:g.121810148G>A	NCBI36
NG_008308.1:g.16705G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000282561.4:c.456G>A MANE Select	ENSP00000282561.3:p.Leu152=
ENST00000647564.1:c.456G>A	ENSP00000497565.1:p.Leu152=
ENST00000649003.1:c.456G>A	ENSP00000497283.1:p.Leu152=
ENST00000650427.1:c.456G>A	ENSP00000497367.1:p.Leu152=
ENST00000282561.3:c.456G>A	ENSP00000282561.3:p.Leu152=
NM_000165.4:c.456G>A	NP_000156.1:p.Leu152=
NM_000165.5:c.456G>A MANE Select	NP_000156.1:p.Leu152=