Canonical Allele Identifier: CA3020066

Gene: ADH1B

Linked Data

• ClinVar Variation Id: 723365
• ClinVar RCV Id: RCV000897114
• dbSNP Id: rs28913916
• ExAC: 4:100239344 A / G
• gnomAD v2: 4-100239344-A-G
• gnomAD v3: 4-99318187-A-G
• gnomAD v4: 4-99318187-A-G
• MyVariant Identifiers: chr4:g.100239344A>G (hg19) ; chr4:g.99318187A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.99318187A>G , CM000666.2:g.99318187A>G	GRCh38
NC_000004.11:g.100239344A>G , CM000666.1:g.100239344A>G	GRCh37
NC_000004.10:g.100458367A>G	NCBI36
NG_011435.1:g.8229T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000305046.13:c.121-3T>C MANE Select	ENSP00000306606.8:n.121-3T>C
ENST00000639454.1:c.121-3T>C	ENSP00000491622.1:n.121-3T>C
ENST00000305046.12:c.121-3T>C	ENSP00000306606.8:n.121-3T>C
ENST00000504498.1:n.175-3T>C
ENST00000506651.5:c.1-3T>C	ENSP00000425998.2:n.1-3T>C
ENST00000515694.4:n.2216-3T>C
ENST00000625860.2:c.1-3T>C	ENSP00000486614.1:n.1-3T>C
ENST00000632775.1:n.681T>C
NM_000668.5:c.121-3T>C	NP_000659.2:n.121-3T>C
NM_001286650.1:c.1-3T>C	NP_001273579.1:n.1-3T>C
NM_000668.6:c.121-3T>C MANE Select	NP_000659.2:n.121-3T>C
NM_001286650.2:c.1-3T>C	NP_001273579.1:n.1-3T>C