Canonical Allele Identifier: CA357497859
Gene: ADH7 HGNC NCBI

Linked Data

dbSNP Id: rs1721636363
gnomAD v4: 4-99420784-C-A
COSMIC: COSM301642

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.99420784C>A , CM000666.2:g.99420784C>A GRCh38
NC_000004.11:g.100341941C>A , CM000666.1:g.100341941C>A GRCh37
NC_000004.10:g.100560964C>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000437033.7:c.574G>T MANE Select ENSP00000414254.2:p.Gly192Cys
ENST00000209665.8:c.610G>T ENSP00000209665.4:p.Gly204Cys
ENST00000437033.6:c.574G>T ENSP00000414254.2:p.Gly192Cys
ENST00000476959.5:c.634G>T ENSP00000420269.1:p.Gly212Cys
ENST00000482593.5:c.403G>T ENSP00000420613.1:p.Gly135Cys
NM_000673.4:c.610G>T NP_000664.2:p.Gly204Cys
NM_001166504.1:c.634G>T NP_001159976.1:p.Gly212Cys
NM_000673.7:c.574G>T MANE Select NP_000664.3:p.Gly192Cys
NM_001166504.2:c.634G>T NP_001159976.1:p.Gly212Cys