Canonical Allele Identifier: CA1659501438
Gene: GJA1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.121446815C= , CM000668.2:g.121446815C= GRCh38
NC_000006.11:g.121767961C= , CM000668.1:g.121767961C= GRCh37
NC_000006.10:g.121809660C= NCBI36
NG_008308.1:g.16217C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000282561.4:c.-16-17C= MANE Select ENSP00000282561.3:n.-16-17C=
ENST00000647564.1:c.-16-17C= ENSP00000497565.1:n.-16-17C=
ENST00000649003.1:c.-16-17C= ENSP00000497283.1:n.-16-17C=
ENST00000650427.1:c.-16-17C= ENSP00000497367.1:n.-16-17C=
ENST00000282561.3:c.-16-17C= ENSP00000282561.3:n.-16-17C=
NM_000165.4:c.-16-17C= NP_000156.1:n.-16-17C=
NM_000165.5:c.-16-17C= MANE Select NP_000156.1:n.-16-17C=