Canonical Allele Identifier: CA357497422
Gene: ADH7 HGNC NCBI

Linked Data

dbSNP Id: rs1721624861
gnomAD v3: 4-99420568-A-G
gnomAD v4: 4-99420568-A-G

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.99420568A>G , CM000666.2:g.99420568A>G GRCh38
NC_000004.11:g.100341725A>G , CM000666.1:g.100341725A>G GRCh37
NC_000004.10:g.100560748A>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000437033.7:c.790T>C MANE Select ENSP00000414254.2:p.Tyr264His
ENST00000209665.8:c.826T>C ENSP00000209665.4:p.Tyr276His
ENST00000437033.6:c.790T>C ENSP00000414254.2:p.Tyr264His
ENST00000476959.5:c.850T>C ENSP00000420269.1:p.Tyr284His
ENST00000482593.5:c.619T>C ENSP00000420613.1:p.Tyr207His
NM_000673.4:c.826T>C NP_000664.2:p.Tyr276His
NM_001166504.1:c.850T>C NP_001159976.1:p.Tyr284His
NM_000673.7:c.790T>C MANE Select NP_000664.3:p.Tyr264His
NM_001166504.2:c.850T>C NP_001159976.1:p.Tyr284His