Canonical Allele Identifier: CA127015
Gene: GJA1 HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 16992
ClinVar RCV Id: RCV000018515
dbSNP Id: rs104893966

User contributed link-outs

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.121447428A>C , CM000668.2:g.121447428A>C GRCh38
NC_000006.10:g.121810273A>C NCBI36
NC_000006.11:g.121768574A>C , CM000668.1:g.121768574A>C GRCh37
NG_008308.1:g.16830A>C

Transcript Alleles

HGVS Amino-acid change
ENST00000282561.3:c.581A>C ENSP00000282561.3:p.His194Pro
NM_000165.4:c.581A>C NP_000156.1:p.His194Pro