Canonical Allele Identifier: CA146809984

Gene: GJA1

Linked Data

• dbSNP Id: rs532275727
• gnomAD v3: 6-121446598-C-A
• gnomAD v4: 6-121446598-C-A
• MyVariant Identifiers: chr6:g.121767744C>A (hg19) ; chr6:g.121446598C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.121446598C>A , CM000668.2:g.121446598C>A	GRCh38
NC_000006.11:g.121767744C>A , CM000668.1:g.121767744C>A	GRCh37
NC_000006.10:g.121809443C>A	NCBI36
NG_008308.1:g.16000C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000282561.4:c.-16-234C>A MANE Select	ENSP00000282561.3:n.-16-234C>A
ENST00000647564.1:c.-16-234C>A	ENSP00000497565.1:n.-16-234C>A
ENST00000649003.1:c.-16-234C>A	ENSP00000497283.1:n.-16-234C>A
ENST00000650427.1:c.-16-234C>A	ENSP00000497367.1:n.-16-234C>A
ENST00000282561.3:c.-16-234C>A	ENSP00000282561.3:n.-16-234C>A
NM_000165.4:c.-16-234C>A	NP_000156.1:n.-16-234C>A
NM_000165.5:c.-16-234C>A MANE Select	NP_000156.1:n.-16-234C>A