Canonical Allele Identifier: CA357497491

Gene: ADH7

Linked Data

• dbSNP Id: rs1227439075
• gnomAD v2: 4-100341759-C-A
• gnomAD v4: 4-99420602-C-A
• MyVariant Identifiers: chr4:g.100341759C>A (hg19) ; chr4:g.99420602C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.99420602C>A , CM000666.2:g.99420602C>A	GRCh38
NC_000004.11:g.100341759C>A , CM000666.1:g.100341759C>A	GRCh37
NC_000004.10:g.100560782C>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000437033.7:c.756G>T MANE Select	ENSP00000414254.2:p.Glu252Asp
ENST00000209665.8:c.792G>T	ENSP00000209665.4:p.Glu264Asp
ENST00000437033.6:c.756G>T	ENSP00000414254.2:p.Glu252Asp
ENST00000476959.5:c.816G>T	ENSP00000420269.1:p.Glu272Asp
ENST00000482593.5:c.585G>T	ENSP00000420613.1:p.Glu195Asp
NM_000673.4:c.792G>T	NP_000664.2:p.Glu264Asp
NM_001166504.1:c.816G>T	NP_001159976.1:p.Glu272Asp
NM_000673.7:c.756G>T MANE Select	NP_000664.3:p.Glu252Asp
NM_001166504.2:c.816G>T	NP_001159976.1:p.Glu272Asp