Canonical Allele Identifier: CA3020747

Gene: ADH7

Linked Data

• dbSNP Id: rs773640231
• ExAC: 4:100341814 G / A
• gnomAD v2: 4-100341814-G-A
• gnomAD v3: 4-99420657-G-A
• gnomAD v4: 4-99420657-G-A
• MyVariant Identifiers: chr4:g.100341814G>A (hg19) ; chr4:g.99420657G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.99420657G>A , CM000666.2:g.99420657G>A	GRCh38
NC_000004.11:g.100341814G>A , CM000666.1:g.100341814G>A	GRCh37
NC_000004.10:g.100560837G>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000437033.7:c.701C>T MANE Select	ENSP00000414254.2:p.Ala234Val
ENST00000209665.8:c.737C>T	ENSP00000209665.4:p.Ala246Val
ENST00000437033.6:c.701C>T	ENSP00000414254.2:p.Ala234Val
ENST00000476959.5:c.761C>T	ENSP00000420269.1:p.Ala254Val
ENST00000482593.5:c.530C>T	ENSP00000420613.1:p.Ala177Val
NM_000673.4:c.737C>T	NP_000664.2:p.Ala246Val
NM_001166504.1:c.761C>T	NP_001159976.1:p.Ala254Val
NM_000673.7:c.701C>T MANE Select	NP_000664.3:p.Ala234Val
NM_001166504.2:c.761C>T	NP_001159976.1:p.Ala254Val