Canonical Allele Identifier: CA371745894
Gene: NDUFAF6 HGNC NCBI

Linked Data

ClinVar Variation Id: 426455
dbSNP Id: rs1085307635
gnomAD v4: 8-95045628-C-G

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.95045628C>G , CM000670.2:g.95045628C>G GRCh38
NC_000008.10:g.96057856C>G , CM000670.1:g.96057856C>G GRCh37
NC_000008.9:g.96127032C>G NCBI36
NG_016647.1:g.25636C>G
NG_016647.2:g.155358C>G

Transcript Alleles

HGVS Amino-acid change
ENST00000519804.2:c.*355C>G ENSP00000430230.2:n.*355C>G
ENST00000697355.1:c.*331C>G ENSP00000513277.1:n.*331C>G
ENST00000697364.1:c.285C>G ENSP00000513278.1:p.Tyr95Ter
ENST00000396124.9:c.561C>G MANE Select ENSP00000379430.4:p.Tyr187Ter
ENST00000396111.6:c.285C>G ENSP00000379417.1:p.Tyr95Ter
ENST00000396113.5:c.285C>G ENSP00000379419.1:p.Tyr95Ter
ENST00000396124.8:c.561C>G ENSP00000379430.4:p.Tyr187Ter
ENST00000454358.6:c.506C>G
ENST00000517976.5:c.746C>G ENSP00000430099.1:n.746C>G
ENST00000518258.5:c.*536C>G ENSP00000428788.1:n.*536C>G
ENST00000518608.5:c.521C>G
ENST00000519136.5:c.228C>G ENSP00000429585.1:p.Tyr76Ter
ENST00000519804.1:c.228C>G ENSP00000430230.1:p.Tyr76Ter
ENST00000520632.5:c.784C>G ENSP00000428666.1:n.784C>G
ENST00000520757.1:c.626C>G
ENST00000523337.5:c.*314C>G ENSP00000429038.1:n.*314C>G
ENST00000523378.5:c.285C>G ENSP00000428034.1:p.Tyr95Ter
NM_152416.3:c.561C>G NP_689629.2:p.Tyr187Ter
XM_005250789.1:c.285C>G XP_005250846.1:p.Tyr95Ter
XM_005250790.1:c.228C>G XP_005250847.1:p.Tyr76Ter
XM_005250791.1:c.105C>G XP_005250848.1:p.Tyr35Ter
XM_005250792.1:c.105C>G XP_005250849.1:p.Tyr35Ter
XM_005250793.1:c.105C>G XP_005250850.1:p.Tyr35Ter
XM_011516833.1:c.405C>G XP_011515135.1:p.Tyr135Ter
XM_011516834.1:c.405C>G XP_011515136.1:p.Tyr135Ter
XM_011516835.1:c.405C>G XP_011515137.1:p.Tyr135Ter
XM_011516836.1:c.405C>G XP_011515138.1:p.Tyr135Ter
XM_011516837.1:c.405C>G XP_011515139.1:p.Tyr135Ter
XM_011516838.1:c.405C>G XP_011515140.1:p.Tyr135Ter
XM_011516839.1:c.405C>G XP_011515141.1:p.Tyr135Ter
XM_011516840.1:c.405C>G XP_011515142.1:p.Tyr135Ter
XM_011516841.1:c.405C>G XP_011515143.1:p.Tyr135Ter
XM_011516842.1:c.405C>G XP_011515144.1:p.Tyr135Ter
XM_011516843.1:c.285C>G XP_011515145.1:p.Tyr95Ter
XM_011516844.1:c.228C>G XP_011515146.1:p.Tyr76Ter
NM_001330582.1:c.285C>G NP_001317511.1:p.Tyr95Ter
NM_001354514.1:c.285C>G NP_001341443.1:p.Tyr95Ter
NM_001354515.1:c.285C>G NP_001341444.1:p.Tyr95Ter
NM_001354516.1:c.405C>G NP_001341445.1:p.Tyr135Ter
NM_001354517.1:c.228C>G NP_001341446.1:p.Tyr76Ter
NM_001354518.1:c.228C>G NP_001341447.1:p.Tyr76Ter
NM_001354519.1:c.228C>G NP_001341448.1:p.Tyr76Ter
NM_001354521.1:c.285C>G NP_001341450.1:p.Tyr95Ter
NM_001354522.1:c.105C>G NP_001341451.1:p.Tyr35Ter
NM_001354524.1:c.105C>G NP_001341453.1:p.Tyr35Ter
NM_001354525.1:c.105C>G NP_001341454.1:p.Tyr35Ter
NM_001354527.1:c.105C>G NP_001341456.1:p.Tyr35Ter
NM_001354528.1:c.105C>G NP_001341457.1:p.Tyr35Ter
NM_001354529.1:c.105C>G NP_001341458.1:p.Tyr35Ter
NM_001354530.1:c.105C>G NP_001341459.1:p.Tyr35Ter
NM_001354531.1:c.105C>G NP_001341460.1:p.Tyr35Ter
NM_001354532.1:c.105C>G NP_001341461.1:p.Tyr35Ter
NM_001354533.1:c.105C>G NP_001341462.1:p.Tyr35Ter
NM_001354534.1:c.228C>G NP_001341463.1:p.Tyr76Ter
NR_148910.1:n.714C>G
NR_148911.1:n.714C>G
NR_148912.1:n.718C>G
NR_148913.1:n.595C>G
NR_148914.1:n.792C>G
NR_148915.1:n.719C>G
XM_005250792.2:c.105C>G XP_005250849.1:p.Tyr35Ter
XM_005250793.3:c.105C>G XP_005250850.1:p.Tyr35Ter
XM_011516833.2:c.405C>G XP_011515135.1:p.Tyr135Ter
XM_011516834.2:c.405C>G XP_011515136.1:p.Tyr135Ter
XM_011516835.2:c.405C>G XP_011515137.1:p.Tyr135Ter
XM_011516836.2:c.405C>G XP_011515138.1:p.Tyr135Ter
XM_011516837.2:c.405C>G XP_011515139.1:p.Tyr135Ter
XM_011516838.2:c.405C>G XP_011515140.1:p.Tyr135Ter
XM_011516839.2:c.405C>G XP_011515141.1:p.Tyr135Ter
XM_011516840.2:c.405C>G XP_011515142.1:p.Tyr135Ter
XM_011516841.2:c.405C>G XP_011515143.1:p.Tyr135Ter
XM_011516842.2:c.405C>G XP_011515144.1:p.Tyr135Ter
XM_017013027.2:c.405C>G XP_016868516.1:p.Tyr135Ter
XM_017013028.1:c.405C>G XP_016868517.1:p.Tyr135Ter
XM_017013029.1:c.405C>G XP_016868518.1:p.Tyr135Ter
XM_017013033.2:c.285C>G XP_016868522.1:p.Tyr95Ter
XM_017013034.1:c.228C>G XP_016868523.1:p.Tyr76Ter
XM_024447062.1:c.228C>G XP_024302830.1:p.Tyr76Ter
NM_152416.4:c.561C>G MANE Select NP_689629.2:p.Tyr187Ter
NR_148913.2:n.581C>G
NR_148914.2:n.778C>G
NM_001330582.2:c.285C>G NP_001317511.1:p.Tyr95Ter
NM_001354514.2:c.285C>G NP_001341443.1:p.Tyr95Ter
NM_001354515.2:c.285C>G NP_001341444.1:p.Tyr95Ter
NM_001354516.2:c.405C>G NP_001341445.1:p.Tyr135Ter
NM_001354517.2:c.228C>G NP_001341446.1:p.Tyr76Ter
NM_001354518.2:c.228C>G NP_001341447.1:p.Tyr76Ter
NM_001354519.2:c.228C>G NP_001341448.1:p.Tyr76Ter
NM_001354521.2:c.285C>G NP_001341450.1:p.Tyr95Ter
NM_001354522.2:c.105C>G NP_001341451.1:p.Tyr35Ter
NM_001354524.2:c.105C>G NP_001341453.1:p.Tyr35Ter
NM_001354525.2:c.105C>G NP_001341454.1:p.Tyr35Ter
NM_001354527.2:c.105C>G NP_001341456.1:p.Tyr35Ter
NM_001354528.2:c.105C>G NP_001341457.1:p.Tyr35Ter
NM_001354529.2:c.105C>G NP_001341458.1:p.Tyr35Ter
NM_001354530.2:c.105C>G NP_001341459.1:p.Tyr35Ter
NM_001354531.2:c.105C>G NP_001341460.1:p.Tyr35Ter
NM_001354532.2:c.105C>G NP_001341461.1:p.Tyr35Ter
NM_001354533.2:c.105C>G NP_001341462.1:p.Tyr35Ter
NM_001354534.2:c.228C>G NP_001341463.1:p.Tyr76Ter
NR_148910.2:n.700C>G
NR_148911.2:n.700C>G
NR_148912.2:n.704C>G
NR_148915.2:n.705C>G