Canonical Allele Identifier: CA127870

Gene: ADH1C ADH1B

Linked Data

• ClinVar Variation Id: 18180
• ClinVar RCV Id: RCV000019811
• dbSNP Id: rs698
• ExAC: 4:100260789 T / C
• gnomAD v2: 4-100260789-T-C
• gnomAD v3: 4-99339632-T-C
• gnomAD v4: 4-99339632-T-C
• MyVariant Identifiers: chr4:g.100260789T>C (hg19) ; chr4:g.99339632T>C (hg38)
• PubMed: PMID:3397059 ; PMID:3758060 ; PMID:10090900 ; PMID:15863807 ; PMID:17718394 ; PMID:17923853

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.99339632T>C , CM000666.2:g.99339632T>C	GRCh38
NC_000004.11:g.100260789T>C , CM000666.1:g.100260789T>C	GRCh37
NC_000004.10:g.100479812T>C	NCBI36
NG_011718.1:g.18129A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000515683.6:c.1048A>G (ADH1C) MANE Select	ENSP00000426083.1:p.Ile350Val
ENST00000639454.1:c.18+13026A>G (ADH1B)	ENSP00000491622.1:n.18+13026A>G
ENST00000515683.5:c.1048A>G (ADH1C)	ENSP00000426083.1:p.Ile350Val
NM_000669.4:c.1048A>G (ADH1C)	NP_000660.1:p.Ile350Val
NR_133005.1:n.1374A>G (ADH1C)
XM_011531588.1:c.946A>G (ADH1C)	XP_011529890.1:p.Ile316Val
XM_011531589.1:c.928A>G (ADH1C)	XP_011529891.1:p.Ile310Val
NM_000669.5:c.1048A>G (ADH1C) MANE Select	NP_000660.1:p.Ile350Val
NR_133005.2:n.1075A>G (ADH1C)