Canonical Allele Identifier: CA800703853

Gene: ADH1B

Linked Data

• dbSNP Id: rs1243638013
• gnomAD v4: 4-99317916-A-C
• MyVariant Identifiers: chr4:g.100239073A>C (hg19) ; chr4:g.99317916A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.99317916A>C , CM000666.2:g.99317916A>C	GRCh38
NC_000004.11:g.100239073A>C , CM000666.1:g.100239073A>C	GRCh37
NC_000004.10:g.100458096A>C	NCBI36
NG_011435.1:g.8500T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000305046.13:c.259+130T>G MANE Select	ENSP00000306606.8:n.259+130T>G
ENST00000639454.1:c.259+130T>G	ENSP00000491622.1:n.259+130T>G
ENST00000305046.12:c.259+130T>G	ENSP00000306606.8:n.259+130T>G
ENST00000504498.1:n.443T>G
ENST00000506651.5:c.139+130T>G	ENSP00000425998.2:n.139+130T>G
ENST00000515694.4:n.2354+130T>G
ENST00000625860.2:c.139+130T>G	ENSP00000486614.1:n.139+130T>G
ENST00000632775.1:n.952T>G
NM_000668.5:c.259+130T>G	NP_000659.2:n.259+130T>G
NM_001286650.1:c.139+130T>G	NP_001273579.1:n.139+130T>G
NM_000668.6:c.259+130T>G MANE Select	NP_000659.2:n.259+130T>G
NM_001286650.2:c.139+130T>G	NP_001273579.1:n.139+130T>G