Canonical Allele Identifier: CA1659501393

Gene: GJA1

Linked Data

• dbSNP Id: rs1731595774
• gnomAD v4: 6-121446701-G-GT

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.121446707dup , CM000668.2:g.121446707dup	GRCh38
NC_000006.11:g.121767853dup , CM000668.1:g.121767853dup	GRCh37
NC_000006.10:g.121809552dup	NCBI36
NG_008308.1:g.16109dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000282561.4:c.-16-125dup MANE Select	ENSP00000282561.3:n.-16-125dup
ENST00000647564.1:c.-16-125dup	ENSP00000497565.1:n.-16-125dup
ENST00000649003.1:c.-16-125dup	ENSP00000497283.1:n.-16-125dup
ENST00000650427.1:c.-16-125dup	ENSP00000497367.1:n.-16-125dup
ENST00000282561.3:c.-16-125dup	ENSP00000282561.3:n.-16-125dup
NM_000165.4:c.-16-125dup	NP_000156.1:n.-16-125dup
NM_000165.5:c.-16-125dup MANE Select	NP_000156.1:n.-16-125dup