Canonical Allele Identifier: CA3020031

Gene: ADH1B

Linked Data

• dbSNP Id: rs777659954
• ExAC: 4:100239174 C / A
• gnomAD v2: 4-100239174-C-A
• gnomAD v4: 4-99318017-C-A
• MyVariant Identifiers: chr4:g.100239174C>A (hg19) ; chr4:g.99318017C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.99318017C>A , CM000666.2:g.99318017C>A	GRCh38
NC_000004.11:g.100239174C>A , CM000666.1:g.100239174C>A	GRCh37
NC_000004.10:g.100458197C>A	NCBI36
NG_011435.1:g.8399G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000305046.13:c.259+29G>T MANE Select	ENSP00000306606.8:n.259+29G>T
ENST00000639454.1:c.259+29G>T	ENSP00000491622.1:n.259+29G>T
ENST00000305046.12:c.259+29G>T	ENSP00000306606.8:n.259+29G>T
ENST00000504498.1:n.342G>T
ENST00000506651.5:c.139+29G>T	ENSP00000425998.2:n.139+29G>T
ENST00000515694.4:n.2354+29G>T
ENST00000625860.2:c.139+29G>T	ENSP00000486614.1:n.139+29G>T
ENST00000632775.1:n.851G>T
NM_000668.5:c.259+29G>T	NP_000659.2:n.259+29G>T
NM_001286650.1:c.139+29G>T	NP_001273579.1:n.139+29G>T
NM_000668.6:c.259+29G>T MANE Select	NP_000659.2:n.259+29G>T
NM_001286650.2:c.139+29G>T	NP_001273579.1:n.139+29G>T