Canonical Allele Identifier: CA357497698

Gene: ADH7

Linked Data

• ClinVar Variation Id: 3089256
• ClinVar RCV Id: RCV004385130
• MyVariant Identifiers: chr4:g.100341856A>T (hg19) ; chr4:g.99420699A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.99420699A>T , CM000666.2:g.99420699A>T	GRCh38
NC_000004.11:g.100341856A>T , CM000666.1:g.100341856A>T	GRCh37
NC_000004.10:g.100560879A>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000437033.7:c.659T>A MANE Select	ENSP00000414254.2:p.Ile220Asn
ENST00000209665.8:c.695T>A	ENSP00000209665.4:p.Ile232Asn
ENST00000437033.6:c.659T>A	ENSP00000414254.2:p.Ile220Asn
ENST00000476959.5:c.719T>A	ENSP00000420269.1:p.Ile240Asn
ENST00000482593.5:c.488T>A	ENSP00000420613.1:p.Ile163Asn
NM_000673.4:c.695T>A	NP_000664.2:p.Ile232Asn
NM_001166504.1:c.719T>A	NP_001159976.1:p.Ile240Asn
NM_000673.7:c.659T>A MANE Select	NP_000664.3:p.Ile220Asn
NM_001166504.2:c.719T>A	NP_001159976.1:p.Ile240Asn