Canonical Allele Identifier: CA357497775
Gene: ADH7 HGNC NCBI

Linked Data

gnomAD v4: 4-99420735-A-G

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.99420735A>G , CM000666.2:g.99420735A>G GRCh38
NC_000004.11:g.100341892A>G , CM000666.1:g.100341892A>G GRCh37
NC_000004.10:g.100560915A>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000437033.7:c.623T>C MANE Select ENSP00000414254.2:p.Ile208Thr
ENST00000209665.8:c.659T>C ENSP00000209665.4:p.Ile220Thr
ENST00000437033.6:c.623T>C ENSP00000414254.2:p.Ile208Thr
ENST00000476959.5:c.683T>C ENSP00000420269.1:p.Ile228Thr
ENST00000482593.5:c.452T>C ENSP00000420613.1:p.Ile151Thr
NM_000673.4:c.659T>C NP_000664.2:p.Ile220Thr
NM_001166504.1:c.683T>C NP_001159976.1:p.Ile228Thr
NM_000673.7:c.623T>C MANE Select NP_000664.3:p.Ile208Thr
NM_001166504.2:c.683T>C NP_001159976.1:p.Ile228Thr