Canonical Allele Identifier: CA357497392
Gene: ADH7 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.99420556C>A , CM000666.2:g.99420556C>A GRCh38
NC_000004.11:g.100341713C>A , CM000666.1:g.100341713C>A GRCh37
NC_000004.10:g.100560736C>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000437033.7:c.802G>T MANE Select ENSP00000414254.2:p.Val268Phe
ENST00000209665.8:c.838G>T ENSP00000209665.4:p.Val280Phe
ENST00000437033.6:c.802G>T ENSP00000414254.2:p.Val268Phe
ENST00000476959.5:c.862G>T ENSP00000420269.1:p.Val288Phe
ENST00000482593.5:c.631G>T ENSP00000420613.1:p.Val211Phe
NM_000673.4:c.838G>T NP_000664.2:p.Val280Phe
NM_001166504.1:c.862G>T NP_001159976.1:p.Val288Phe
NM_000673.7:c.802G>T MANE Select NP_000664.3:p.Val268Phe
NM_001166504.2:c.862G>T NP_001159976.1:p.Val288Phe