Canonical Allele Identifier: CA357498933
Gene: ADH7 HGNC NCBI
MyVariant.info:
GRCh38 chr4:g.99429569T>G
GRCh37 chr4:g.100350726T>G
Revel Score:
ENST00000437033 (MANE Select) 0.304
ENST00000209665 0.304
ENST00000476959 0.304
ClinVar RCV:
RCV004154261
ClinVar Variation:
2301917
dbSNP:
1473115072
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.99429569T>G , CM000666.2:g.99429569T>G GRCh38
NC_000004.11:g.100350726T>G , CM000666.1:g.100350726T>G GRCh37
NC_000004.10:g.100569749T>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000437033.7:c.83A>C MANE Select ENSP00000414254.2:p.Glu28Ala
ENST00000209665.8:c.119A>C ENSP00000209665.4:p.Glu40Ala
ENST00000437033.6:c.83A>C ENSP00000414254.2:p.Glu28Ala
ENST00000474027.1:c.-89A>C ENSP00000420300.1:n.-89A>C
ENST00000476959.5:c.143A>C ENSP00000420269.1:p.Glu48Ala
ENST00000482593.5:c.-89A>C ENSP00000420613.1:n.-89A>C
NM_000673.4:c.119A>C NP_000664.2:p.Glu40Ala
NM_001166504.1:c.143A>C NP_001159976.1:p.Glu48Ala
NM_000673.7:c.83A>C MANE Select NP_000664.3:p.Glu28Ala
NM_001166504.2:c.143A>C NP_001159976.1:p.Glu48Ala
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