Canonical Allele Identifier: CA357497478

Gene: ADH7

Linked Data

• ClinVar Variation Id: 3089258
• ClinVar RCV Id: RCV004385132
• MyVariant Identifiers: chr4:g.100341752A>G (hg19) ; chr4:g.99420595A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.99420595A>G , CM000666.2:g.99420595A>G	GRCh38
NC_000004.11:g.100341752A>G , CM000666.1:g.100341752A>G	GRCh37
NC_000004.10:g.100560775A>G	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000437033.7:c.763T>C MANE Select	ENSP00000414254.2:p.Ser255Pro
ENST00000209665.8:c.799T>C	ENSP00000209665.4:p.Ser267Pro
ENST00000437033.6:c.763T>C	ENSP00000414254.2:p.Ser255Pro
ENST00000476959.5:c.823T>C	ENSP00000420269.1:p.Ser275Pro
ENST00000482593.5:c.592T>C	ENSP00000420613.1:p.Ser198Pro
NM_000673.4:c.799T>C	NP_000664.2:p.Ser267Pro
NM_001166504.1:c.823T>C	NP_001159976.1:p.Ser275Pro
NM_000673.7:c.763T>C MANE Select	NP_000664.3:p.Ser255Pro
NM_001166504.2:c.823T>C	NP_001159976.1:p.Ser275Pro