Canonical Allele Identifier: CA3019721
Gene: ADH1B HGNC NCBI

Linked Data

dbSNP Id: rs767717760
ExAC: 4:100229003 C / T
gnomAD v2: 4-100229003-C-T
gnomAD v3: 4-99307846-C-T
gnomAD v4: 4-99307846-C-T
COSMIC: COSM4150394
MyVariant Identifiers: chr4:g.100229003C>T (hg19) chr4:g.99307846C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.99307846C>T , CM000666.2:g.99307846C>T GRCh38
NC_000004.11:g.100229003C>T , CM000666.1:g.100229003C>T GRCh37
NC_000004.10:g.100448026C>T NCBI36
NG_011435.1:g.18570G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000305046.13:c.1122G>A MANE Select ENSP00000306606.8:p.Thr374=
ENST00000639454.1:c.1122G>A ENSP00000491622.1:p.Thr374=
ENST00000305046.12:c.1122G>A ENSP00000306606.8:p.Thr374=
ENST00000506651.5:c.1002G>A ENSP00000425998.2:p.Thr334=
ENST00000515694.4:n.3217G>A
ENST00000625860.2:c.1002G>A ENSP00000486614.1:p.Thr334=
NM_000668.5:c.1122G>A NP_000659.2:p.Thr374=
NM_001286650.1:c.1002G>A NP_001273579.1:p.Thr334=
NM_000668.6:c.1122G>A MANE Select NP_000659.2:p.Thr374=
NM_001286650.2:c.1002G>A NP_001273579.1:p.Thr334=
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