Canonical Allele Identifier: CA800726261

Gene: ADH1B

Linked Data

• dbSNP Id: rs979639583
• gnomAD v3: 4-99307713-C-T
• gnomAD v4: 4-99307713-C-T
• MyVariant Identifiers: chr4:g.100228870C>T (hg19) ; chr4:g.99307713C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.99307713C>T , CM000666.2:g.99307713C>T	GRCh38
NC_000004.11:g.100228870C>T , CM000666.1:g.100228870C>T	GRCh37
NC_000004.10:g.100447893C>T	NCBI36
NG_011435.1:g.18703G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000305046.13:c.*127G>A MANE Select	ENSP00000306606.8:n.*127G>A
ENST00000305046.12:c.*127G>A	ENSP00000306606.8:n.*127G>A
ENST00000506651.5:c.*127G>A	ENSP00000425998.2:n.*127G>A
ENST00000515694.4:n.3350G>A
ENST00000625860.2:c.*127G>A	ENSP00000486614.1:n.*127G>A
NM_000668.5:c.*127G>A	NP_000659.2:n.*127G>A
NM_001286650.1:c.*127G>A	NP_001273579.1:n.*127G>A
NM_000668.6:c.*127G>A MANE Select	NP_000659.2:n.*127G>A
NM_001286650.2:c.*127G>A	NP_001273579.1:n.*127G>A