Canonical Allele Identifier: CA10621318

Gene: GJA1

Linked Data

• ClinVar Variation Id: 355170
• ClinVar RCV Id: RCV000289708 ; RCV000328392 ; RCV000381548 ; RCV001591021
• dbSNP Id: rs139128953
• gnomAD v2: 6-121769385-A-G
• gnomAD v3: 6-121448239-A-G
• gnomAD v4: 6-121448239-A-G
• MyVariant Identifiers: chr6:g.121769385A>G (hg19) ; chr6:g.121448239A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.121448239A>G , CM000668.2:g.121448239A>G	GRCh38
NC_000006.11:g.121769385A>G , CM000668.1:g.121769385A>G	GRCh37
NC_000006.10:g.121811084A>G	NCBI36
NG_008308.1:g.17641A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000282561.4:c.*243A>G MANE Select	ENSP00000282561.3:n.*243A>G
ENST00000647564.1:c.*243A>G	ENSP00000497565.1:n.*243A>G
ENST00000649003.1:c.*243A>G	ENSP00000497283.1:n.*243A>G
ENST00000650427.1:c.*243A>G	ENSP00000497367.1:n.*243A>G
ENST00000282561.3:c.*243A>G	ENSP00000282561.3:n.*243A>G
NM_000165.4:c.*243A>G	NP_000156.1:n.*243A>G
NM_000165.5:c.*243A>G MANE Select	NP_000156.1:n.*243A>G