Canonical Allele Identifier: CA146810000

Gene: GJA1

Linked Data

• dbSNP Id: rs548067967
• gnomAD v3: 6-121446716-A-G
• gnomAD v4: 6-121446716-A-G
• MyVariant Identifiers: chr6:g.121767862A>G (hg19) ; chr6:g.121446716A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.121446716A>G , CM000668.2:g.121446716A>G	GRCh38
NC_000006.11:g.121767862A>G , CM000668.1:g.121767862A>G	GRCh37
NC_000006.10:g.121809561A>G	NCBI36
NG_008308.1:g.16118A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000282561.4:c.-16-116A>G MANE Select	ENSP00000282561.3:n.-16-116A>G
ENST00000647564.1:c.-16-116A>G	ENSP00000497565.1:n.-16-116A>G
ENST00000649003.1:c.-16-116A>G	ENSP00000497283.1:n.-16-116A>G
ENST00000650427.1:c.-16-116A>G	ENSP00000497367.1:n.-16-116A>G
ENST00000282561.3:c.-16-116A>G	ENSP00000282561.3:n.-16-116A>G
NM_000165.4:c.-16-116A>G	NP_000156.1:n.-16-116A>G
NM_000165.5:c.-16-116A>G MANE Select	NP_000156.1:n.-16-116A>G