Canonical Allele Identifier: CA11695470

Gene: ADH1C ADH1B

Linked Data

• dbSNP Id: rs1391088
• gnomAD v2: 4-100258224-A-C
• gnomAD v3: 4-99337067-A-C
• gnomAD v4: 4-99337067-A-C
• MyVariant Identifiers: chr4:g.100258224A>C (hg19) ; chr4:g.99337067A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.99337067A>C , CM000666.2:g.99337067A>C	GRCh38
NC_000004.11:g.100258224A>C , CM000666.1:g.100258224A>C	GRCh37
NC_000004.10:g.100477247A>C	NCBI36
NG_011718.1:g.20694T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000515683.6:c.1104-291T>G (ADH1C) MANE Select	ENSP00000426083.1:n.1104-291T>G
ENST00000639454.1:c.18+15591T>G (ADH1B)	ENSP00000491622.1:n.18+15591T>G
ENST00000515683.5:c.1104-291T>G (ADH1C)	ENSP00000426083.1:n.1104-291T>G
NM_000669.4:c.1104-291T>G (ADH1C)	NP_000660.1:n.1104-291T>G
NR_133005.1:n.1430-291T>G (ADH1C)
XM_011531588.1:c.1002-291T>G (ADH1C)	XP_011529890.1:n.1002-291T>G
XM_011531589.1:c.984-291T>G (ADH1C)	XP_011529891.1:n.984-291T>G
NM_000669.5:c.1104-291T>G (ADH1C) MANE Select	NP_000660.1:n.1104-291T>G
NR_133005.2:n.1131-291T>G (ADH1C)