Canonical Allele Identifier: CA3020726
Gene: ADH7 HGNC NCBI

Linked Data

ClinVar Variation Id: 3089266
ClinVar RCV Id: RCV004385140
dbSNP Id: rs764699940
ExAC: 4:100341703 T / C
gnomAD v2: 4-100341703-T-C
gnomAD v4: 4-99420546-T-C
MyVariant Identifiers: chr4:g.100341703T>C (hg19) chr4:g.99420546T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.99420546T>C , CM000666.2:g.99420546T>C GRCh38
NC_000004.11:g.100341703T>C , CM000666.1:g.100341703T>C GRCh37
NC_000004.10:g.100560726T>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000437033.7:c.812A>G MANE Select ENSP00000414254.2:p.His271Arg
ENST00000209665.8:c.848A>G ENSP00000209665.4:p.His283Arg
ENST00000437033.6:c.812A>G ENSP00000414254.2:p.His271Arg
ENST00000476959.5:c.872A>G ENSP00000420269.1:p.His291Arg
ENST00000482593.5:c.641A>G ENSP00000420613.1:p.His214Arg
NM_000673.4:c.848A>G NP_000664.2:p.His283Arg
NM_001166504.1:c.872A>G NP_001159976.1:p.His291Arg
NM_000673.7:c.812A>G MANE Select NP_000664.3:p.His271Arg
NM_001166504.2:c.872A>G NP_001159976.1:p.His291Arg
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