Canonical Allele Identifier: CA146809986

Gene: GJA1

Linked Data

• dbSNP Id: rs552010809
• gnomAD v3: 6-121446602-T-C
• gnomAD v4: 6-121446602-T-C
• MyVariant Identifiers: chr6:g.121767748T>C (hg19) ; chr6:g.121446602T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.121446602T>C , CM000668.2:g.121446602T>C	GRCh38
NC_000006.11:g.121767748T>C , CM000668.1:g.121767748T>C	GRCh37
NC_000006.10:g.121809447T>C	NCBI36
NG_008308.1:g.16004T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000282561.4:c.-16-230T>C MANE Select	ENSP00000282561.3:n.-16-230T>C
ENST00000647564.1:c.-16-230T>C	ENSP00000497565.1:n.-16-230T>C
ENST00000649003.1:c.-16-230T>C	ENSP00000497283.1:n.-16-230T>C
ENST00000650427.1:c.-16-230T>C	ENSP00000497367.1:n.-16-230T>C
ENST00000282561.3:c.-16-230T>C	ENSP00000282561.3:n.-16-230T>C
NM_000165.4:c.-16-230T>C	NP_000156.1:n.-16-230T>C
NM_000165.5:c.-16-230T>C MANE Select	NP_000156.1:n.-16-230T>C