Canonical Allele Identifier: CA357489340

Gene: ADH1C ADH1B

Linked Data

• dbSNP Id: rs766035972
• gnomAD v3: 4-99342818-C-G
• gnomAD v4: 4-99342818-C-G
• MyVariant Identifiers: chr4:g.100263975C>G (hg19) ; chr4:g.99342818C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.99342818C>G , CM000666.2:g.99342818C>G	GRCh38
NC_000004.11:g.100263975C>G , CM000666.1:g.100263975C>G	GRCh37
NC_000004.10:g.100482998C>G	NCBI36
NG_011718.1:g.14943G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000515683.6:c.805G>C (ADH1C) MANE Select	ENSP00000426083.1:p.Val269Leu
ENST00000639454.1:c.18+9840G>C (ADH1B)	ENSP00000491622.1:n.18+9840G>C
ENST00000515683.5:c.805G>C (ADH1C)	ENSP00000426083.1:p.Val269Leu
NM_000669.4:c.805G>C (ADH1C)	NP_000660.1:p.Val269Leu
NR_133005.1:n.1154+21G>C (ADH1C)
XM_011531588.1:c.703G>C (ADH1C)	XP_011529890.1:p.Val235Leu
XM_011531589.1:c.685G>C (ADH1C)	XP_011529891.1:p.Val229Leu
NM_000669.5:c.805G>C (ADH1C) MANE Select	NP_000660.1:p.Val269Leu
NR_133005.2:n.855+21G>C (ADH1C)