Canonical Allele Identifier: CA800706443
Gene: ADH1B HGNC NCBI

Linked Data

dbSNP Id: rs570351836
gnomAD v3: 4-99321729-C-A
gnomAD v4: 4-99321729-C-A

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.99321729C>A , CM000666.2:g.99321729C>A GRCh38
NC_000004.11:g.100242886C>A , CM000666.1:g.100242886C>A GRCh37
NC_000004.10:g.100461909C>A NCBI36
NG_011435.1:g.4687G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000639454.1:c.19-2843G>T ENSP00000491622.1:n.19-2843G>T