Canonical Allele Identifier: CA101637463

Gene: ADH1B

Linked Data

• dbSNP Id: rs979639583
• gnomAD v2: 4-100228870-C-A
• gnomAD v3: 4-99307713-C-A
• gnomAD v4: 4-99307713-C-A
• MyVariant Identifiers: chr4:g.100228870C>A (hg19) ; chr4:g.99307713C>A (hg38)

Genomic Alleles

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

Transcript Alleles

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