Canonical Allele Identifier: CA3020776

Gene: ADH7

Linked Data

• dbSNP Id: rs376821544
• ExAC: 4:100341929 C / A
• gnomAD v2: 4-100341929-C-A
• gnomAD v4: 4-99420772-C-A
• MyVariant Identifiers: chr4:g.100341929C>A (hg19) ; chr4:g.99420772C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.99420772C>A , CM000666.2:g.99420772C>A	GRCh38
NC_000004.11:g.100341929C>A , CM000666.1:g.100341929C>A	GRCh37
NC_000004.10:g.100560952C>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000437033.7:c.586G>T MANE Select	ENSP00000414254.2:p.Val196Phe
ENST00000209665.8:c.622G>T	ENSP00000209665.4:p.Val208Phe
ENST00000437033.6:c.586G>T	ENSP00000414254.2:p.Val196Phe
ENST00000476959.5:c.646G>T	ENSP00000420269.1:p.Val216Phe
ENST00000482593.5:c.415G>T	ENSP00000420613.1:p.Val139Phe
NM_000673.4:c.622G>T	NP_000664.2:p.Val208Phe
NM_001166504.1:c.646G>T	NP_001159976.1:p.Val216Phe
NM_000673.7:c.586G>T MANE Select	NP_000664.3:p.Val196Phe
NM_001166504.2:c.646G>T	NP_001159976.1:p.Val216Phe