Canonical Allele Identifier: CA3020774
Gene: ADH7 HGNC NCBI

Linked Data

dbSNP Id: rs377699817
ExAC: 4:100341926 C / T
gnomAD v2: 4-100341926-C-T
gnomAD v3: 4-99420769-C-T
gnomAD v4: 4-99420769-C-T
MyVariant Identifiers: chr4:g.100341926C>T (hg19) chr4:g.99420769C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.99420769C>T , CM000666.2:g.99420769C>T GRCh38
NC_000004.11:g.100341926C>T , CM000666.1:g.100341926C>T GRCh37
NC_000004.10:g.100560949C>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000437033.7:c.589G>A MANE Select ENSP00000414254.2:p.Val197Ile
ENST00000209665.8:c.625G>A ENSP00000209665.4:p.Val209Ile
ENST00000437033.6:c.589G>A ENSP00000414254.2:p.Val197Ile
ENST00000476959.5:c.649G>A ENSP00000420269.1:p.Val217Ile
ENST00000482593.5:c.418G>A ENSP00000420613.1:p.Val140Ile
NM_000673.4:c.625G>A NP_000664.2:p.Val209Ile
NM_001166504.1:c.649G>A NP_001159976.1:p.Val217Ile
NM_000673.7:c.589G>A MANE Select NP_000664.3:p.Val197Ile
NM_001166504.2:c.649G>A NP_001159976.1:p.Val217Ile
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