Canonical Allele Identifier: CA371742613

Gene: NDUFAF6

Linked Data

• ClinVar Variation Id: 2012297
• ClinVar RCV Id: RCV002843007
• MyVariant Identifiers: chr8:g.96037327G>C (hg19) ; chr8:g.95025099G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.95025099G>C , CM000670.2:g.95025099G>C	GRCh38
NC_000008.10:g.96037327G>C , CM000670.1:g.96037327G>C	GRCh37
NC_000008.9:g.96106503G>C	NCBI36
NG_016647.1:g.5107G>C
NG_016647.2:g.134829G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000519804.2:c.91G>C	ENSP00000430230.2:p.Ala31Pro
ENST00000697355.1:c.-83-6896G>C	ENSP00000513277.1:n.-83-6896G>C
ENST00000697364.1:c.-83-6896G>C	ENSP00000513278.1:n.-83-6896G>C
ENST00000396124.9:c.91G>C MANE Select	ENSP00000379430.4:p.Ala31Pro
ENST00000396111.6:c.-83-6896G>C	ENSP00000379417.1:n.-83-6896G>C
ENST00000396113.5:c.-84+1780G>C	ENSP00000379419.1:n.-84+1780G>C
ENST00000396124.8:c.91G>C	ENSP00000379430.4:p.Ala31Pro
ENST00000454358.6:c.32G>C
ENST00000517976.5:c.79G>C	ENSP00000430099.1:p.Ala27Pro
ENST00000518258.5:c.91G>C	ENSP00000428788.1:p.Ala31Pro
ENST00000518608.5:c.32G>C
ENST00000519136.5:c.-255-6896G>C	ENSP00000429585.1:n.-255-6896G>C
ENST00000520632.5:c.67G>C	ENSP00000428666.1:p.Ala23Pro
ENST00000520757.1:c.32G>C
ENST00000522683.5:c.34G>C	ENSP00000430991.1:p.Ala12Pro
ENST00000523337.5:c.91G>C	ENSP00000429038.1:p.Ala31Pro
ENST00000523378.5:c.-83-6896G>C	ENSP00000428034.1:n.-83-6896G>C
NM_152416.3:c.91G>C	NP_689629.2:p.Ala31Pro
XM_005250789.1:c.-190G>C	XP_005250846.1:n.-190G>C
XM_005250790.1:c.-362G>C	XP_005250847.1:n.-362G>C
XM_005250791.1:c.-490G>C	XP_005250848.1:n.-490G>C
XM_005250792.1:c.-494G>C	XP_005250849.1:n.-494G>C
XM_011516833.1:c.42-6896G>C	XP_011515135.1:n.42-6896G>C
XM_011516834.1:c.42-6896G>C	XP_011515136.1:n.42-6896G>C
XM_011516835.1:c.42-6896G>C	XP_011515137.1:n.42-6896G>C
XM_011516836.1:c.42-6896G>C	XP_011515138.1:n.42-6896G>C
XM_011516837.1:c.42-6896G>C	XP_011515139.1:n.42-6896G>C
XM_011516838.1:c.42-6896G>C	XP_011515140.1:n.42-6896G>C
XM_011516839.1:c.42-6896G>C	XP_011515141.1:n.42-6896G>C
XM_011516840.1:c.42-6896G>C	XP_011515142.1:n.42-6896G>C
XM_011516841.1:c.42-6896G>C	XP_011515143.1:n.42-6896G>C
XM_011516842.1:c.42-6896G>C	XP_011515144.1:n.42-6896G>C
XM_011516843.1:c.-84+1780G>C	XP_011515145.1:n.-84+1780G>C
NM_001330582.1:c.-190G>C	NP_001317511.1:n.-190G>C
NM_001354514.1:c.-83-6896G>C	NP_001341443.1:n.-83-6896G>C
NM_001354515.1:c.-83-6896G>C	NP_001341444.1:n.-83-6896G>C
NM_001354516.1:c.42-6896G>C	NP_001341445.1:n.42-6896G>C
NM_001354517.1:c.-143G>C	NP_001341446.1:n.-143G>C
NM_001354518.1:c.-362G>C	NP_001341447.1:n.-362G>C
NM_001354519.1:c.-358G>C	NP_001341448.1:n.-358G>C
NM_001354521.1:c.-190G>C	NP_001341450.1:n.-190G>C
NM_001354522.1:c.-383-6896G>C	NP_001341451.1:n.-383-6896G>C
NM_001354524.1:c.-456-6896G>C	NP_001341453.1:n.-456-6896G>C
NM_001354525.1:c.-456-6896G>C	NP_001341454.1:n.-456-6896G>C
NM_001354527.1:c.-707G>C	NP_001341456.1:n.-707G>C
NM_001354528.1:c.-678G>C	NP_001341457.1:n.-678G>C
NM_001354529.1:c.-490G>C	NP_001341458.1:n.-490G>C
NM_001354530.1:c.-592G>C	NP_001341459.1:n.-592G>C
NM_001354531.1:c.-588G>C	NP_001341460.1:n.-588G>C
NM_001354532.1:c.-596G>C	NP_001341461.1:n.-596G>C
NM_001354533.1:c.-559G>C	NP_001341462.1:n.-559G>C
NM_001354534.1:c.-136-6896G>C	NP_001341463.1:n.-136-6896G>C
NR_148910.1:n.125G>C
NR_148911.1:n.125G>C
NR_148912.1:n.125G>C
NR_148913.1:n.125G>C
NR_148914.1:n.125G>C
NR_148915.1:n.125G>C
XM_005250792.2:c.-494G>C	XP_005250849.1:n.-494G>C
XM_005250793.3:c.-563G>C	XP_005250850.1:n.-563G>C
XM_011516833.2:c.42-6896G>C	XP_011515135.1:n.42-6896G>C
XM_011516834.2:c.42-6896G>C	XP_011515136.1:n.42-6896G>C
XM_011516835.2:c.42-6896G>C	XP_011515137.1:n.42-6896G>C
XM_011516836.2:c.42-6896G>C	XP_011515138.1:n.42-6896G>C
XM_011516837.2:c.42-6896G>C	XP_011515139.1:n.42-6896G>C
XM_011516838.2:c.42-6896G>C	XP_011515140.1:n.42-6896G>C
XM_011516839.2:c.42-6896G>C	XP_011515141.1:n.42-6896G>C
XM_011516840.2:c.42-6896G>C	XP_011515142.1:n.42-6896G>C
XM_011516841.2:c.42-6896G>C	XP_011515143.1:n.42-6896G>C
XM_011516842.2:c.42-6896G>C	XP_011515144.1:n.42-6896G>C
XM_017013027.2:c.42-6896G>C	XP_016868516.1:n.42-6896G>C
XM_017013028.1:c.42-6896G>C	XP_016868517.1:n.42-6896G>C
XM_017013029.1:c.42-6896G>C	XP_016868518.1:n.42-6896G>C
XM_017013033.2:c.-84+1780G>C	XP_016868522.1:n.-84+1780G>C
XM_024447062.1:c.-136-6896G>C	XP_024302830.1:n.-136-6896G>C
NM_152416.4:c.91G>C MANE Select	NP_689629.2:p.Ala31Pro
NR_148913.2:n.111G>C
NR_148914.2:n.111G>C
NM_001330582.2:c.-190G>C	NP_001317511.1:n.-190G>C
NM_001354514.2:c.-83-6896G>C	NP_001341443.1:n.-83-6896G>C
NM_001354515.2:c.-83-6896G>C	NP_001341444.1:n.-83-6896G>C
NM_001354516.2:c.42-6896G>C	NP_001341445.1:n.42-6896G>C
NM_001354517.2:c.-143G>C	NP_001341446.1:n.-143G>C
NM_001354518.2:c.-362G>C	NP_001341447.1:n.-362G>C
NM_001354519.2:c.-358G>C	NP_001341448.1:n.-358G>C
NM_001354521.2:c.-190G>C	NP_001341450.1:n.-190G>C
NM_001354522.2:c.-383-6896G>C	NP_001341451.1:n.-383-6896G>C
NM_001354524.2:c.-456-6896G>C	NP_001341453.1:n.-456-6896G>C
NM_001354525.2:c.-456-6896G>C	NP_001341454.1:n.-456-6896G>C
NM_001354527.2:c.-707G>C	NP_001341456.1:n.-707G>C
NM_001354528.2:c.-678G>C	NP_001341457.1:n.-678G>C
NM_001354529.2:c.-490G>C	NP_001341458.1:n.-490G>C
NM_001354530.2:c.-592G>C	NP_001341459.1:n.-592G>C
NM_001354531.2:c.-588G>C	NP_001341460.1:n.-588G>C
NM_001354532.2:c.-596G>C	NP_001341461.1:n.-596G>C
NM_001354533.2:c.-559G>C	NP_001341462.1:n.-559G>C
NM_001354534.2:c.-136-6896G>C	NP_001341463.1:n.-136-6896G>C
NR_148910.2:n.111G>C
NR_148911.2:n.111G>C
NR_148912.2:n.111G>C
NR_148915.2:n.111G>C