Canonical Allele Identifier: CA7491322
Gene: NDUFAF1 HGNC NCBI

Linked Data

ClinVar Variation Id: 887953
dbSNP Id: rs576430165
COSMIC: COSM961408

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.41396524C>T , CM000677.2:g.41396524C>T GRCh38
NC_000015.9:g.41688722C>T , CM000677.1:g.41688722C>T GRCh37
NC_000015.8:g.39476014C>T NCBI36
NG_031924.1:g.10937G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000260361.9:c.536G>A MANE Select ENSP00000260361.4:p.Arg179Gln
ENST00000558719.2:c.536G>A ENSP00000454083.2:p.Arg179Gln
ENST00000560978.2:c.536G>A ENSP00000453944.2:p.Arg179Gln
ENST00000676533.1:c.536G>A ENSP00000504040.1:p.Arg179Gln
ENST00000676906.1:c.77G>A ENSP00000503122.1:p.Arg26Gln
ENST00000677477.1:n.1762G>A
ENST00000678029.1:c.536G>A ENSP00000503887.1:p.Arg179Gln
ENST00000678745.1:c.536G>A ENSP00000503632.1:p.Arg179Gln
ENST00000679094.1:c.536G>A ENSP00000504295.1:p.Arg179Gln
ENST00000679240.1:n.934G>A
ENST00000260361.8:c.536G>A ENSP00000260361.4:p.Arg179Gln
ENST00000558719.1:c.536G>A ENSP00000454083.1:p.Arg179Gln
ENST00000559127.5:c.536G>A ENSP00000453027.1:p.Arg179Gln
ENST00000560978.1:c.536G>A ENSP00000453944.1:p.Arg179Gln
NM_016013.3:c.536G>A NP_057097.2:p.Arg179Gln
NR_045620.1:n.934G>A
XM_006720555.1:c.536G>A XP_006720618.1:p.Arg179Gln
XM_011521658.1:c.536G>A XP_011519960.1:p.Arg179Gln
XM_011521659.1:c.536G>A XP_011519961.1:p.Arg179Gln
XM_006720555.3:c.536G>A XP_006720618.1:p.Arg179Gln
XM_011521659.3:c.536G>A XP_011519961.1:p.Arg179Gln
XM_024449945.1:c.536G>A XP_024305713.1:p.Arg179Gln
NM_016013.4:c.536G>A MANE Select NP_057097.2:p.Arg179Gln
NR_045620.2:n.970G>A