Canonical Allele Identifier: CA1065915690
Gene: ADH7 HGNC NCBI

Linked Data

dbSNP Id: rs1696107397
gnomAD v3: 4-99420309-A-G
gnomAD v4: 4-99420309-A-G

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.99420309A>G , CM000666.2:g.99420309A>G GRCh38
NC_000004.11:g.100341466A>G , CM000666.1:g.100341466A>G GRCh37
NC_000004.10:g.100560489A>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000437033.7:c.825+224T>C MANE Select ENSP00000414254.2:n.825+224T>C
ENST00000209665.8:c.861+224T>C ENSP00000209665.4:n.861+224T>C
ENST00000437033.6:c.825+224T>C ENSP00000414254.2:n.825+224T>C
ENST00000476959.5:c.885+224T>C ENSP00000420269.1:n.885+224T>C
ENST00000482593.5:c.654+224T>C ENSP00000420613.1:n.654+224T>C
NM_000673.4:c.861+224T>C NP_000664.2:n.861+224T>C
NM_001166504.1:c.885+224T>C NP_001159976.1:n.885+224T>C
NM_000673.7:c.825+224T>C MANE Select NP_000664.3:n.825+224T>C
NM_001166504.2:c.885+224T>C NP_001159976.1:n.885+224T>C