Canonical Allele Identifier: CA3020038

Gene: ADH1B

Linked Data

• dbSNP Id: rs762335814
• ExAC: 4:100239212 C / G
• gnomAD v2: 4-100239212-C-G
• gnomAD v4: 4-99318055-C-G
• MyVariant Identifiers: chr4:g.100239212C>G (hg19) ; chr4:g.99318055C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.99318055C>G , CM000666.2:g.99318055C>G	GRCh38
NC_000004.11:g.100239212C>G , CM000666.1:g.100239212C>G	GRCh37
NC_000004.10:g.100458235C>G	NCBI36
NG_011435.1:g.8361G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000305046.13:c.250G>C MANE Select	ENSP00000306606.8:p.Val84Leu
ENST00000639454.1:c.250G>C	ENSP00000491622.1:p.Val84Leu
ENST00000305046.12:c.250G>C	ENSP00000306606.8:p.Val84Leu
ENST00000504498.1:n.304G>C
ENST00000506651.5:c.130G>C	ENSP00000425998.2:p.Val44Leu
ENST00000515694.4:n.2345G>C
ENST00000625860.2:c.130G>C	ENSP00000486614.1:p.Val44Leu
ENST00000632775.1:n.813G>C
NM_000668.5:c.250G>C	NP_000659.2:p.Val84Leu
NM_001286650.1:c.130G>C	NP_001273579.1:p.Val44Leu
NM_000668.6:c.250G>C MANE Select	NP_000659.2:p.Val84Leu
NM_001286650.2:c.130G>C	NP_001273579.1:p.Val44Leu