Canonical Allele Identifier: CA800706534
Gene: ADH1B HGNC NCBI

Linked Data

dbSNP Id: rs1207257271
gnomAD v3: 4-99321908-A-C
gnomAD v4: 4-99321908-A-C

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.99321908A>C , CM000666.2:g.99321908A>C GRCh38
NC_000004.11:g.100243065A>C , CM000666.1:g.100243065A>C GRCh37
NC_000004.10:g.100462088A>C NCBI36
NG_011435.1:g.4508T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000639454.1:c.19-3022T>G ENSP00000491622.1:n.19-3022T>G