Canonical Allele Identifier: CA357489262

Gene: ADH1C ADH1B

Linked Data

• dbSNP Id: rs1395450124
• gnomAD v2: 4-100263966-G-A
• gnomAD v3: 4-99342809-G-A
• gnomAD v4: 4-99342809-G-A
• MyVariant Identifiers: chr4:g.100263966G>A (hg19) ; chr4:g.99342809G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.99342809G>A , CM000666.2:g.99342809G>A	GRCh38
NC_000004.11:g.100263966G>A , CM000666.1:g.100263966G>A	GRCh37
NC_000004.10:g.100482989G>A	NCBI36
NG_011718.1:g.14952C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000515683.6:c.814C>T (ADH1C) MANE Select	ENSP00000426083.1:p.Arg272Trp
ENST00000639454.1:c.18+9849C>T (ADH1B)	ENSP00000491622.1:n.18+9849C>T
ENST00000515683.5:c.814C>T (ADH1C)	ENSP00000426083.1:p.Arg272Trp
NM_000669.4:c.814C>T (ADH1C)	NP_000660.1:p.Arg272Trp
NR_133005.1:n.1154+30C>T (ADH1C)
XM_011531588.1:c.712C>T (ADH1C)	XP_011529890.1:p.Arg238Trp
XM_011531589.1:c.694C>T (ADH1C)	XP_011529891.1:p.Arg232Trp
NM_000669.5:c.814C>T (ADH1C) MANE Select	NP_000660.1:p.Arg272Trp
NR_133005.2:n.855+30C>T (ADH1C)