Canonical Allele Identifier: CA452133969

Gene: GJA1

Linked Data

• ClinVar Variation Id: 2858355
• ClinVar RCV Id: RCV003632173
• MyVariant Identifiers: chr6:g.121768599C>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.121447453C>A , CM000668.2:g.121447453C>A	GRCh38
NC_000006.11:g.121768599C>A , CM000668.1:g.121768599C>A	GRCh37
NC_000006.10:g.121810298C>A	NCBI36
NG_008308.1:g.16855C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000282561.4:c.606C>A MANE Select	ENSP00000282561.3:p.Arg202=
ENST00000647564.1:c.606C>A	ENSP00000497565.1:p.Arg202=
ENST00000649003.1:c.606C>A	ENSP00000497283.1:p.Arg202=
ENST00000650427.1:c.606C>A	ENSP00000497367.1:p.Arg202=
ENST00000282561.3:c.606C>A	ENSP00000282561.3:p.Arg202=
NM_000165.4:c.606C>A	NP_000156.1:p.Arg202=
NM_000165.5:c.606C>A MANE Select	NP_000156.1:p.Arg202=