Canonical Allele Identifier: CA8136225
Gene: NQO1 HGNC NCBI
COSMIC:
COSM5019452 (not active)
MyVariant.info:
GRCh38 chr16:g.69714966G>A
GRCh37 chr16:g.69748869G>A
Revel Score:
ENST00000320623 (MANE Select) 0.053
ENST00000379047 0.053
gnomAD v2:
16:69748869 G / A
gnomAD v3:
16:69714966 G / A
gnomAD v4:
chr16-69714966-G-A
Joint Max Group AF 0.05834516 (SAS)
Genomes Max Group AF 0.05399411 (SAS)
Exomes Max Group AF 0.05830945 (SAS)
dbSNP:
1131341
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.69714966G>A , CM000678.2:g.69714966G>A GRCh38
NC_000016.9:g.69748869G>A , CM000678.1:g.69748869G>A GRCh37
NC_000016.8:g.68306370G>A NCBI36
NG_011504.1:g.16665C>T
NG_011504.2:g.16665C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000320623.10:c.415C>T MANE Select ENSP00000319788.5:p.Arg139Trp
ENST00000320623.9:c.415C>T ENSP00000319788.5:p.Arg139Trp
ENST00000379046.6:c.304-1837C>T ENSP00000368334.2:n.304-1837C>T
ENST00000379047.7:c.415C>T ENSP00000368335.3:p.Arg139Trp
ENST00000439109.6:c.303+3157C>T ENSP00000398330.2:n.303+3157C>T
ENST00000561500.5:c.304-1837C>T ENSP00000456282.1:n.304-1837C>T
ENST00000564043.1:c.352C>T ENSP00000455020.1:p.Arg118Trp
NM_000903.2:c.415C>T NP_000894.1:p.Arg139Trp
NM_001025433.1:c.415C>T NP_001020604.1:p.Arg139Trp
NM_001025434.1:c.304-1837C>T NP_001020605.1:n.304-1837C>T
NM_001286137.1:c.303+3157C>T NP_001273066.1:n.303+3157C>T
NM_000903.3:c.415C>T MANE Select NP_000894.1:p.Arg139Trp
NM_001025433.2:c.415C>T NP_001020604.1:p.Arg139Trp
NM_001025434.2:c.304-1837C>T NP_001020605.1:n.304-1837C>T
NM_001286137.2:c.303+3157C>T NP_001273066.1:n.303+3157C>T
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