Canonical Allele Identifier: CA10621312

Gene: GJA1

Linked Data

• ClinVar Variation Id: 355157
• ClinVar RCV Id: RCV000269687 ; RCV000329447 ; RCV000364357 ; RCV002274018
• dbSNP Id: rs111581053
• gnomAD v2: 6-121756928-C-G
• gnomAD v3: 6-121435782-C-G
• gnomAD v4: 6-121435782-C-G
• MyVariant Identifiers: chr6:g.121756928C>G (hg19) ; chr6:g.121435782C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.121435782C>G , CM000668.2:g.121435782C>G	GRCh38
NC_000006.11:g.121756928C>G , CM000668.1:g.121756928C>G	GRCh37
NC_000006.10:g.121798627C>G	NCBI36
NG_008308.1:g.5184C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000282561.4:c.-67C>G MANE Select	ENSP00000282561.3:n.-67C>G
ENST00000649003.1:c.-17+122C>G	ENSP00000497283.1:n.-17+122C>G
ENST00000282561.3:c.-67C>G	ENSP00000282561.3:n.-67C>G
NM_000165.4:c.-67C>G	NP_000156.1:n.-67C>G
NM_000165.5:c.-67C>G MANE Select	NP_000156.1:n.-67C>G