Canonical Allele Identifier: CA357479532

Gene: ADH1B

Linked Data

• MyVariant Identifiers: chr4:g.100239318G>C (hg19) ; chr4:g.99318161G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.99318161G>C , CM000666.2:g.99318161G>C	GRCh38
NC_000004.11:g.100239318G>C , CM000666.1:g.100239318G>C	GRCh37
NC_000004.10:g.100458341G>C	NCBI36
NG_011435.1:g.8255C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000305046.13:c.144C>G MANE Select	ENSP00000306606.8:p.His48Gln
ENST00000639454.1:c.144C>G	ENSP00000491622.1:p.His48Gln
ENST00000305046.12:c.144C>G	ENSP00000306606.8:p.His48Gln
ENST00000504498.1:n.198C>G
ENST00000506651.5:c.24C>G	ENSP00000425998.2:p.His8Gln
ENST00000515694.4:n.2239C>G
ENST00000625860.2:c.24C>G	ENSP00000486614.1:p.His8Gln
ENST00000632775.1:n.707C>G
NM_000668.5:c.144C>G	NP_000659.2:p.His48Gln
NM_001286650.1:c.24C>G	NP_001273579.1:p.His8Gln
NM_000668.6:c.144C>G MANE Select	NP_000659.2:p.His48Gln
NM_001286650.2:c.24C>G	NP_001273579.1:p.His8Gln