Canonical Allele Identifier: CA3019720

Gene: ADH1B

Linked Data

• dbSNP Id: rs762025480
• ExAC: 4:100229000 A / G
• gnomAD v2: 4-100229000-A-G
• gnomAD v3: 4-99307843-A-G
• gnomAD v4: 4-99307843-A-G
• MyVariant Identifiers: chr4:g.100229000A>G (hg19) ; chr4:g.99307843A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.99307843A>G , CM000666.2:g.99307843A>G	GRCh38
NC_000004.11:g.100229000A>G , CM000666.1:g.100229000A>G	GRCh37
NC_000004.10:g.100448023A>G	NCBI36
NG_011435.1:g.18573T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000305046.13:c.1125T>C MANE Select	ENSP00000306606.8:p.Phe375=
ENST00000639454.1:c.1125T>C	ENSP00000491622.1:p.Phe375=
ENST00000305046.12:c.1125T>C	ENSP00000306606.8:p.Phe375=
ENST00000506651.5:c.1005T>C	ENSP00000425998.2:p.Phe335=
ENST00000515694.4:n.3220T>C
ENST00000625860.2:c.1005T>C	ENSP00000486614.1:p.Phe335=
NM_000668.5:c.1125T>C	NP_000659.2:p.Phe375=
NM_001286650.1:c.1005T>C	NP_001273579.1:p.Phe335=
NM_000668.6:c.1125T>C MANE Select	NP_000659.2:p.Phe375=
NM_001286650.2:c.1005T>C	NP_001273579.1:p.Phe335=