Canonical Allele Identifier: CA1065904874
Gene: ADH1B HGNC NCBI

Linked Data

dbSNP Id: rs1397334453
gnomAD v3: 4-99321716-G-C
gnomAD v4: 4-99321716-G-C

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.99321716G>C , CM000666.2:g.99321716G>C GRCh38
NC_000004.11:g.100242873G>C , CM000666.1:g.100242873G>C GRCh37
NC_000004.10:g.100461896G>C NCBI36
NG_011435.1:g.4700C>G

Transcript Alleles

HGVS Amino-acid change
ENST00000639454.1:c.19-2830C>G ENSP00000491622.1:n.19-2830C>G