Canonical Allele Identifier: CA3020779
Gene: ADH7 HGNC NCBI

Linked Data

dbSNP Id: rs527467181
ExAC: 4:100341933 A / C
gnomAD v2: 4-100341933-A-C
gnomAD v3: 4-99420776-A-C
gnomAD v4: 4-99420776-A-C
MyVariant Identifiers: chr4:g.100341933A>C (hg19) chr4:g.99420776A>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.99420776A>C , CM000666.2:g.99420776A>C GRCh38
NC_000004.11:g.100341933A>C , CM000666.1:g.100341933A>C GRCh37
NC_000004.10:g.100560956A>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000437033.7:c.582T>G MANE Select ENSP00000414254.2:p.Thr194=
ENST00000209665.8:c.618T>G ENSP00000209665.4:p.Thr206=
ENST00000437033.6:c.582T>G ENSP00000414254.2:p.Thr194=
ENST00000476959.5:c.642T>G ENSP00000420269.1:p.Thr214=
ENST00000482593.5:c.411T>G ENSP00000420613.1:p.Thr137=
NM_000673.4:c.618T>G NP_000664.2:p.Thr206=
NM_001166504.1:c.642T>G NP_001159976.1:p.Thr214=
NM_000673.7:c.582T>G MANE Select NP_000664.3:p.Thr194=
NM_001166504.2:c.642T>G NP_001159976.1:p.Thr214=
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