Canonical Allele Identifier: CA1065904930
Gene: ADH1B HGNC NCBI

Linked Data

dbSNP Id: rs1734042863
gnomAD v3: 4-99321914-T-C
gnomAD v4: 4-99321914-T-C

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.99321914T>C , CM000666.2:g.99321914T>C GRCh38
NC_000004.11:g.100243071T>C , CM000666.1:g.100243071T>C GRCh37
NC_000004.10:g.100462094T>C NCBI36
NG_011435.1:g.4502A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000639454.1:c.19-3028A>G ENSP00000491622.1:n.19-3028A>G