Canonical Allele Identifier: CA3020760
Gene: ADH7 HGNC NCBI

Linked Data

dbSNP Id: rs142925993
ExAC: 4:100341856 A / G
gnomAD v2: 4-100341856-A-G
gnomAD v3: 4-99420699-A-G
gnomAD v4: 4-99420699-A-G
MyVariant Identifiers: chr4:g.100341856A>G (hg19) chr4:g.99420699A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.99420699A>G , CM000666.2:g.99420699A>G GRCh38
NC_000004.11:g.100341856A>G , CM000666.1:g.100341856A>G GRCh37
NC_000004.10:g.100560879A>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000437033.7:c.659T>C MANE Select ENSP00000414254.2:p.Ile220Thr
ENST00000209665.8:c.695T>C ENSP00000209665.4:p.Ile232Thr
ENST00000437033.6:c.659T>C ENSP00000414254.2:p.Ile220Thr
ENST00000476959.5:c.719T>C ENSP00000420269.1:p.Ile240Thr
ENST00000482593.5:c.488T>C ENSP00000420613.1:p.Ile163Thr
NM_000673.4:c.695T>C NP_000664.2:p.Ile232Thr
NM_001166504.1:c.719T>C NP_001159976.1:p.Ile240Thr
NM_000673.7:c.659T>C MANE Select NP_000664.3:p.Ile220Thr
NM_001166504.2:c.719T>C NP_001159976.1:p.Ile240Thr
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