Canonical Allele Identifier: CA800706446
Gene: ADH1B HGNC NCBI

Linked Data

dbSNP Id: rs1469453754
gnomAD v3: 4-99321739-C-T
gnomAD v4: 4-99321739-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.99321739C>T , CM000666.2:g.99321739C>T GRCh38
NC_000004.11:g.100242896C>T , CM000666.1:g.100242896C>T GRCh37
NC_000004.10:g.100461919C>T NCBI36
NG_011435.1:g.4677G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000639454.1:c.19-2853G>A ENSP00000491622.1:n.19-2853G>A