Canonical Allele Identifier: CA1659501335

Gene: GJA1

Linked Data

• dbSNP Id: rs1174488795

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.121446569A>C , CM000668.2:g.121446569A>C	GRCh38
NC_000006.11:g.121767715A>C , CM000668.1:g.121767715A>C	GRCh37
NC_000006.10:g.121809414A>C	NCBI36
NG_008308.1:g.15971A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000282561.4:c.-16-263A>C MANE Select	ENSP00000282561.3:n.-16-263A>C
ENST00000647564.1:c.-16-263A>C	ENSP00000497565.1:n.-16-263A>C
ENST00000649003.1:c.-16-263A>C	ENSP00000497283.1:n.-16-263A>C
ENST00000650427.1:c.-16-263A>C	ENSP00000497367.1:n.-16-263A>C
ENST00000282561.3:c.-16-263A>C	ENSP00000282561.3:n.-16-263A>C
NM_000165.4:c.-16-263A>C	NP_000156.1:n.-16-263A>C
NM_000165.5:c.-16-263A>C MANE Select	NP_000156.1:n.-16-263A>C