Canonical Allele Identifier: CA3020773

Gene: ADH7

Linked Data

• dbSNP Id: rs775565468
• ExAC: 4:100341925 A / G
• gnomAD v3: 4-99420768-A-G
• gnomAD v4: 4-99420768-A-G
• MyVariant Identifiers: chr4:g.100341925A>G (hg19) ; chr4:g.99420768A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.99420768A>G , CM000666.2:g.99420768A>G	GRCh38
NC_000004.11:g.100341925A>G , CM000666.1:g.100341925A>G	GRCh37
NC_000004.10:g.100560948A>G	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000437033.7:c.590T>C MANE Select	ENSP00000414254.2:p.Val197Ala
ENST00000209665.8:c.626T>C	ENSP00000209665.4:p.Val209Ala
ENST00000437033.6:c.590T>C	ENSP00000414254.2:p.Val197Ala
ENST00000476959.5:c.650T>C	ENSP00000420269.1:p.Val217Ala
ENST00000482593.5:c.419T>C	ENSP00000420613.1:p.Val140Ala
NM_000673.4:c.626T>C	NP_000664.2:p.Val209Ala
NM_001166504.1:c.650T>C	NP_001159976.1:p.Val217Ala
NM_000673.7:c.590T>C MANE Select	NP_000664.3:p.Val197Ala
NM_001166504.2:c.650T>C	NP_001159976.1:p.Val217Ala