Canonical Allele Identifier: CA800706544
Gene: ADH1B HGNC NCBI

Linked Data

dbSNP Id: rs1430327164
gnomAD v3: 4-99321952-G-A
gnomAD v4: 4-99321952-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.99321952G>A , CM000666.2:g.99321952G>A GRCh38
NC_000004.11:g.100243109G>A , CM000666.1:g.100243109G>A GRCh37
NC_000004.10:g.100462132G>A NCBI36
NG_011435.1:g.4464C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000639454.1:c.19-3066C>T ENSP00000491622.1:n.19-3066C>T