Canonical Allele Identifier: CA114348
Gene: NDUFAF6 HGNC NCBI

Linked Data

dbSNP Id: rs137853184
MyVariant Identifiers: chr8:g.96044321A>G (hg19) chr8:g.95032093A>G (hg38)
PubMed: PMID:18614015 PMID:22019594
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.95032093A>G , CM000670.2:g.95032093A>G GRCh38
NC_000008.10:g.96044321A>G , CM000670.1:g.96044321A>G GRCh37
NC_000008.9:g.96113497A>G NCBI36
NG_016647.1:g.12101A>G
NG_016647.2:g.141823A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000519804.2:c.296A>G ENSP00000430230.2:p.Gln99Arg
ENST00000697355.1:c.16A>G ENSP00000513277.1:p.Arg6Gly
ENST00000697364.1:c.16A>G ENSP00000513278.1:p.Arg6Gly
ENST00000396124.9:c.296A>G MANE Select ENSP00000379430.4:p.Gln99Arg
ENST00000396111.6:c.16A>G ENSP00000379417.1:p.Arg6Gly
ENST00000396113.5:c.16A>G ENSP00000379419.1:p.Arg6Gly
ENST00000396124.8:c.296A>G ENSP00000379430.4:p.Gln99Arg
ENST00000454358.6:c.237A>G
ENST00000517976.5:c.284A>G ENSP00000430099.1:p.Gln95Arg
ENST00000518258.5:c.296A>G ENSP00000428788.1:p.Gln99Arg
ENST00000518608.5:c.139-3361A>G
ENST00000519136.5:c.-157A>G ENSP00000429585.1:n.-157A>G
ENST00000520632.5:c.272A>G ENSP00000428666.1:p.Gln91Arg
ENST00000520757.1:c.237A>G
ENST00000522683.5:c.239A>G ENSP00000430991.1:p.Gln80Arg
ENST00000523337.5:c.296A>G ENSP00000429038.1:p.Gln99Arg
ENST00000523378.5:c.16A>G ENSP00000428034.1:p.Arg6Gly
NM_152416.3:c.296A>G NP_689629.2:p.Gln99Arg
XM_005250789.1:c.16A>G XP_005250846.1:p.Arg6Gly
XM_005250790.1:c.-157A>G XP_005250847.1:n.-157A>G
XM_005250791.1:c.-285A>G XP_005250848.1:n.-285A>G
XM_005250792.1:c.-289A>G XP_005250849.1:n.-289A>G
XM_005250793.1:c.-358A>G XP_005250850.1:n.-358A>G
XM_011516833.1:c.140A>G XP_011515135.1:p.Gln47Arg
XM_011516834.1:c.140A>G XP_011515136.1:p.Gln47Arg
XM_011516835.1:c.140A>G XP_011515137.1:p.Gln47Arg
XM_011516836.1:c.140A>G XP_011515138.1:p.Gln47Arg
XM_011516837.1:c.140A>G XP_011515139.1:p.Gln47Arg
XM_011516838.1:c.140A>G XP_011515140.1:p.Gln47Arg
XM_011516839.1:c.140A>G XP_011515141.1:p.Gln47Arg
XM_011516840.1:c.140A>G XP_011515142.1:p.Gln47Arg
XM_011516841.1:c.140A>G XP_011515143.1:p.Gln47Arg
XM_011516842.1:c.140A>G XP_011515144.1:p.Gln47Arg
XM_011516843.1:c.16A>G XP_011515145.1:p.Arg6Gly
XM_011516844.1:c.-152+82A>G XP_011515146.1:n.-152+82A>G
NM_001330582.1:c.16A>G NP_001317511.1:p.Arg6Gly
NM_001354514.1:c.16A>G NP_001341443.1:p.Arg6Gly
NM_001354515.1:c.16A>G NP_001341444.1:p.Arg6Gly
NM_001354516.1:c.140A>G NP_001341445.1:p.Gln47Arg
NM_001354517.1:c.-36-3361A>G NP_001341446.1:n.-36-3361A>G
NM_001354518.1:c.-157A>G NP_001341447.1:n.-157A>G
NM_001354519.1:c.-153A>G NP_001341448.1:n.-153A>G
NM_001354521.1:c.16A>G NP_001341450.1:p.Arg6Gly
NM_001354522.1:c.-285A>G NP_001341451.1:n.-285A>G
NM_001354524.1:c.-358A>G NP_001341453.1:n.-358A>G
NM_001354525.1:c.-358A>G NP_001341454.1:n.-358A>G
NM_001354527.1:c.-502A>G NP_001341456.1:n.-502A>G
NM_001354528.1:c.-473A>G NP_001341457.1:n.-473A>G
NM_001354529.1:c.-285A>G NP_001341458.1:n.-285A>G
NM_001354530.1:c.-387A>G NP_001341459.1:n.-387A>G
NM_001354531.1:c.-383A>G NP_001341460.1:n.-383A>G
NM_001354532.1:c.-391A>G NP_001341461.1:n.-391A>G
NM_001354533.1:c.-354A>G NP_001341462.1:n.-354A>G
NM_001354534.1:c.-38A>G NP_001341463.1:n.-38A>G
NR_148910.1:n.330A>G
NR_148911.1:n.330A>G
NR_148912.1:n.330A>G
NR_148913.1:n.330A>G
NR_148914.1:n.330A>G
NR_148915.1:n.330A>G
XM_005250792.2:c.-289A>G XP_005250849.1:n.-289A>G
XM_005250793.3:c.-358A>G XP_005250850.1:n.-358A>G
XM_011516833.2:c.140A>G XP_011515135.1:p.Gln47Arg
XM_011516834.2:c.140A>G XP_011515136.1:p.Gln47Arg
XM_011516835.2:c.140A>G XP_011515137.1:p.Gln47Arg
XM_011516836.2:c.140A>G XP_011515138.1:p.Gln47Arg
XM_011516837.2:c.140A>G XP_011515139.1:p.Gln47Arg
XM_011516838.2:c.140A>G XP_011515140.1:p.Gln47Arg
XM_011516839.2:c.140A>G XP_011515141.1:p.Gln47Arg
XM_011516840.2:c.140A>G XP_011515142.1:p.Gln47Arg
XM_011516841.2:c.140A>G XP_011515143.1:p.Gln47Arg
XM_011516842.2:c.140A>G XP_011515144.1:p.Gln47Arg
XM_017013027.2:c.140A>G XP_016868516.1:p.Gln47Arg
XM_017013028.1:c.140A>G XP_016868517.1:p.Gln47Arg
XM_017013029.1:c.140A>G XP_016868518.1:p.Gln47Arg
XM_017013033.2:c.16A>G XP_016868522.1:p.Arg6Gly
XM_024447062.1:c.-38A>G XP_024302830.1:n.-38A>G
NM_152416.4:c.296A>G MANE Select NP_689629.2:p.Gln99Arg
NR_148913.2:n.316A>G
NR_148914.2:n.316A>G
NM_001330582.2:c.16A>G NP_001317511.1:p.Arg6Gly
NM_001354514.2:c.16A>G NP_001341443.1:p.Arg6Gly
NM_001354515.2:c.16A>G NP_001341444.1:p.Arg6Gly
NM_001354516.2:c.140A>G NP_001341445.1:p.Gln47Arg
NM_001354517.2:c.-36-3361A>G NP_001341446.1:n.-36-3361A>G
NM_001354518.2:c.-157A>G NP_001341447.1:n.-157A>G
NM_001354519.2:c.-153A>G NP_001341448.1:n.-153A>G
NM_001354521.2:c.16A>G NP_001341450.1:p.Arg6Gly
NM_001354522.2:c.-285A>G NP_001341451.1:n.-285A>G
NM_001354524.2:c.-358A>G NP_001341453.1:n.-358A>G
NM_001354525.2:c.-358A>G NP_001341454.1:n.-358A>G
NM_001354527.2:c.-502A>G NP_001341456.1:n.-502A>G
NM_001354528.2:c.-473A>G NP_001341457.1:n.-473A>G
NM_001354529.2:c.-285A>G NP_001341458.1:n.-285A>G
NM_001354530.2:c.-387A>G NP_001341459.1:n.-387A>G
NM_001354531.2:c.-383A>G NP_001341460.1:n.-383A>G
NM_001354532.2:c.-391A>G NP_001341461.1:n.-391A>G
NM_001354533.2:c.-354A>G NP_001341462.1:n.-354A>G
NM_001354534.2:c.-38A>G NP_001341463.1:n.-38A>G
NR_148910.2:n.316A>G
NR_148911.2:n.316A>G
NR_148912.2:n.316A>G
NR_148915.2:n.316A>G
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