Canonical Allele Identifier: CA102645937

Gene: ADH7

Linked Data

• dbSNP Id: rs189036180
• gnomAD v3: 4-99420641-C-A
• gnomAD v4: 4-99420641-C-A
• MyVariant Identifiers: chr4:g.100341798C>A (hg19) ; chr4:g.99420641C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.99420641C>A , CM000666.2:g.99420641C>A	GRCh38
NC_000004.11:g.100341798C>A , CM000666.1:g.100341798C>A	GRCh37
NC_000004.10:g.100560821C>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000437033.7:c.717G>T MANE Select	ENSP00000414254.2:p.Glu239Asp
ENST00000209665.8:c.753G>T	ENSP00000209665.4:p.Glu251Asp
ENST00000437033.6:c.717G>T	ENSP00000414254.2:p.Glu239Asp
ENST00000476959.5:c.777G>T	ENSP00000420269.1:p.Glu259Asp
ENST00000482593.5:c.546G>T	ENSP00000420613.1:p.Glu182Asp
NM_000673.4:c.753G>T	NP_000664.2:p.Glu251Asp
NM_001166504.1:c.777G>T	NP_001159976.1:p.Glu259Asp
NM_000673.7:c.717G>T MANE Select	NP_000664.3:p.Glu239Asp
NM_001166504.2:c.777G>T	NP_001159976.1:p.Glu259Asp