Canonical Allele Identifier: CA553101608
Gene: ADH1B HGNC NCBI

Linked Data

dbSNP Id: rs1242471294
gnomAD v3: 4-99321869-A-G
gnomAD v4: 4-99321869-A-G

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.99321869A>G , CM000666.2:g.99321869A>G GRCh38
NC_000004.11:g.100243026A>G , CM000666.1:g.100243026A>G GRCh37
NC_000004.10:g.100462049A>G NCBI36
NG_011435.1:g.4547T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000639454.1:c.19-2983T>C ENSP00000491622.1:n.19-2983T>C