Canonical Allele Identifier: CA365558536

Gene: GJA1

Linked Data

• ClinVar Variation Id: 1712162
• ClinVar RCV Id: RCV002293880
• MyVariant Identifiers: chr6:g.121768277A>G (hg19) ; chr6:g.121447131A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.121447131A>G , CM000668.2:g.121447131A>G	GRCh38
NC_000006.11:g.121768277A>G , CM000668.1:g.121768277A>G	GRCh37
NC_000006.10:g.121809976A>G	NCBI36
NG_008308.1:g.16533A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000282561.4:c.284A>G MANE Select	ENSP00000282561.3:p.His95Arg
ENST00000647564.1:c.284A>G	ENSP00000497565.1:p.His95Arg
ENST00000649003.1:c.284A>G	ENSP00000497283.1:p.His95Arg
ENST00000650427.1:c.284A>G	ENSP00000497367.1:p.His95Arg
ENST00000282561.3:c.284A>G	ENSP00000282561.3:p.His95Arg
NM_000165.4:c.284A>G	NP_000156.1:p.His95Arg
NM_000165.5:c.284A>G MANE Select	NP_000156.1:p.His95Arg