Canonical Allele Identifier: CA553101603
Gene: ADH1B HGNC NCBI

Linked Data

dbSNP Id: rs1437938240
gnomAD v3: 4-99321735-T-G
gnomAD v4: 4-99321735-T-G

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.99321735T>G , CM000666.2:g.99321735T>G GRCh38
NC_000004.11:g.100242892T>G , CM000666.1:g.100242892T>G GRCh37
NC_000004.10:g.100461915T>G NCBI36
NG_011435.1:g.4681A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000639454.1:c.19-2849A>C ENSP00000491622.1:n.19-2849A>C