Canonical Allele Identifier: CA320539

Gene: NDUFAF6

Linked Data

• ClinVar Variation Id: 214210
• ClinVar RCV Id: RCV000424427 ; RCV002485304 ; RCV002517198 ; RCV003917795
• dbSNP Id: rs201223057
• ExAC: 8:96037319 G / C
• gnomAD v2: 8-96037319-G-C
• gnomAD v3: 8-95025091-G-C
• gnomAD v4: 8-95025091-G-C
• MyVariant Identifiers: chr8:g.96037319G>C (hg19) ; chr8:g.95025091G>C (hg38)
• PubMed: PMID:28135719

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.95025091G>C , CM000670.2:g.95025091G>C	GRCh38
NC_000008.10:g.96037319G>C , CM000670.1:g.96037319G>C	GRCh37
NC_000008.9:g.96106495G>C	NCBI36
NG_016647.1:g.5099G>C
NG_016647.2:g.134821G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000519804.2:c.83G>C	ENSP00000430230.2:p.Gly28Ala
ENST00000697355.1:c.-83-6904G>C	ENSP00000513277.1:n.-83-6904G>C
ENST00000697364.1:c.-83-6904G>C	ENSP00000513278.1:n.-83-6904G>C
ENST00000396124.9:c.83G>C MANE Select	ENSP00000379430.4:p.Gly28Ala
ENST00000396111.6:c.-83-6904G>C	ENSP00000379417.1:n.-83-6904G>C
ENST00000396113.5:c.-84+1772G>C	ENSP00000379419.1:n.-84+1772G>C
ENST00000396124.8:c.83G>C	ENSP00000379430.4:p.Gly28Ala
ENST00000454358.6:c.24G>C
ENST00000517976.5:c.71G>C	ENSP00000430099.1:p.Gly24Ala
ENST00000518258.5:c.83G>C	ENSP00000428788.1:p.Gly28Ala
ENST00000518608.5:c.24G>C
ENST00000519136.5:c.-255-6904G>C	ENSP00000429585.1:n.-255-6904G>C
ENST00000520632.5:c.59G>C	ENSP00000428666.1:p.Gly20Ala
ENST00000520757.1:c.24G>C
ENST00000522683.5:c.26G>C	ENSP00000430991.1:p.Gly9Ala
ENST00000523337.5:c.83G>C	ENSP00000429038.1:p.Gly28Ala
ENST00000523378.5:c.-83-6904G>C	ENSP00000428034.1:n.-83-6904G>C
NM_152416.3:c.83G>C	NP_689629.2:p.Gly28Ala
XM_005250789.1:c.-198G>C	XP_005250846.1:n.-198G>C
XM_005250790.1:c.-370G>C	XP_005250847.1:n.-370G>C
XM_005250791.1:c.-498G>C	XP_005250848.1:n.-498G>C
XM_005250792.1:c.-502G>C	XP_005250849.1:n.-502G>C
XM_011516833.1:c.42-6904G>C	XP_011515135.1:n.42-6904G>C
XM_011516834.1:c.42-6904G>C	XP_011515136.1:n.42-6904G>C
XM_011516835.1:c.42-6904G>C	XP_011515137.1:n.42-6904G>C
XM_011516836.1:c.42-6904G>C	XP_011515138.1:n.42-6904G>C
XM_011516837.1:c.42-6904G>C	XP_011515139.1:n.42-6904G>C
XM_011516838.1:c.42-6904G>C	XP_011515140.1:n.42-6904G>C
XM_011516839.1:c.42-6904G>C	XP_011515141.1:n.42-6904G>C
XM_011516840.1:c.42-6904G>C	XP_011515142.1:n.42-6904G>C
XM_011516841.1:c.42-6904G>C	XP_011515143.1:n.42-6904G>C
XM_011516842.1:c.42-6904G>C	XP_011515144.1:n.42-6904G>C
XM_011516843.1:c.-84+1772G>C	XP_011515145.1:n.-84+1772G>C
NM_001330582.1:c.-198G>C	NP_001317511.1:n.-198G>C
NM_001354514.1:c.-83-6904G>C	NP_001341443.1:n.-83-6904G>C
NM_001354515.1:c.-83-6904G>C	NP_001341444.1:n.-83-6904G>C
NM_001354516.1:c.42-6904G>C	NP_001341445.1:n.42-6904G>C
NM_001354517.1:c.-151G>C	NP_001341446.1:n.-151G>C
NM_001354518.1:c.-370G>C	NP_001341447.1:n.-370G>C
NM_001354519.1:c.-366G>C	NP_001341448.1:n.-366G>C
NM_001354521.1:c.-198G>C	NP_001341450.1:n.-198G>C
NM_001354522.1:c.-383-6904G>C	NP_001341451.1:n.-383-6904G>C
NM_001354524.1:c.-456-6904G>C	NP_001341453.1:n.-456-6904G>C
NM_001354525.1:c.-456-6904G>C	NP_001341454.1:n.-456-6904G>C
NM_001354527.1:c.-715G>C	NP_001341456.1:n.-715G>C
NM_001354528.1:c.-686G>C	NP_001341457.1:n.-686G>C
NM_001354529.1:c.-498G>C	NP_001341458.1:n.-498G>C
NM_001354530.1:c.-600G>C	NP_001341459.1:n.-600G>C
NM_001354531.1:c.-596G>C	NP_001341460.1:n.-596G>C
NM_001354532.1:c.-604G>C	NP_001341461.1:n.-604G>C
NM_001354533.1:c.-567G>C	NP_001341462.1:n.-567G>C
NM_001354534.1:c.-136-6904G>C	NP_001341463.1:n.-136-6904G>C
NR_148910.1:n.117G>C
NR_148911.1:n.117G>C
NR_148912.1:n.117G>C
NR_148913.1:n.117G>C
NR_148914.1:n.117G>C
NR_148915.1:n.117G>C
XM_005250792.2:c.-502G>C	XP_005250849.1:n.-502G>C
XM_005250793.3:c.-571G>C	XP_005250850.1:n.-571G>C
XM_011516833.2:c.42-6904G>C	XP_011515135.1:n.42-6904G>C
XM_011516834.2:c.42-6904G>C	XP_011515136.1:n.42-6904G>C
XM_011516835.2:c.42-6904G>C	XP_011515137.1:n.42-6904G>C
XM_011516836.2:c.42-6904G>C	XP_011515138.1:n.42-6904G>C
XM_011516837.2:c.42-6904G>C	XP_011515139.1:n.42-6904G>C
XM_011516838.2:c.42-6904G>C	XP_011515140.1:n.42-6904G>C
XM_011516839.2:c.42-6904G>C	XP_011515141.1:n.42-6904G>C
XM_011516840.2:c.42-6904G>C	XP_011515142.1:n.42-6904G>C
XM_011516841.2:c.42-6904G>C	XP_011515143.1:n.42-6904G>C
XM_011516842.2:c.42-6904G>C	XP_011515144.1:n.42-6904G>C
XM_017013027.2:c.42-6904G>C	XP_016868516.1:n.42-6904G>C
XM_017013028.1:c.42-6904G>C	XP_016868517.1:n.42-6904G>C
XM_017013029.1:c.42-6904G>C	XP_016868518.1:n.42-6904G>C
XM_017013033.2:c.-84+1772G>C	XP_016868522.1:n.-84+1772G>C
XM_024447062.1:c.-136-6904G>C	XP_024302830.1:n.-136-6904G>C
NM_152416.4:c.83G>C MANE Select	NP_689629.2:p.Gly28Ala
NR_148913.2:n.103G>C
NR_148914.2:n.103G>C
NM_001330582.2:c.-198G>C	NP_001317511.1:n.-198G>C
NM_001354514.2:c.-83-6904G>C	NP_001341443.1:n.-83-6904G>C
NM_001354515.2:c.-83-6904G>C	NP_001341444.1:n.-83-6904G>C
NM_001354516.2:c.42-6904G>C	NP_001341445.1:n.42-6904G>C
NM_001354517.2:c.-151G>C	NP_001341446.1:n.-151G>C
NM_001354518.2:c.-370G>C	NP_001341447.1:n.-370G>C
NM_001354519.2:c.-366G>C	NP_001341448.1:n.-366G>C
NM_001354521.2:c.-198G>C	NP_001341450.1:n.-198G>C
NM_001354522.2:c.-383-6904G>C	NP_001341451.1:n.-383-6904G>C
NM_001354524.2:c.-456-6904G>C	NP_001341453.1:n.-456-6904G>C
NM_001354525.2:c.-456-6904G>C	NP_001341454.1:n.-456-6904G>C
NM_001354527.2:c.-715G>C	NP_001341456.1:n.-715G>C
NM_001354528.2:c.-686G>C	NP_001341457.1:n.-686G>C
NM_001354529.2:c.-498G>C	NP_001341458.1:n.-498G>C
NM_001354530.2:c.-600G>C	NP_001341459.1:n.-600G>C
NM_001354531.2:c.-596G>C	NP_001341460.1:n.-596G>C
NM_001354532.2:c.-604G>C	NP_001341461.1:n.-604G>C
NM_001354533.2:c.-567G>C	NP_001341462.1:n.-567G>C
NM_001354534.2:c.-136-6904G>C	NP_001341463.1:n.-136-6904G>C
NR_148910.2:n.103G>C
NR_148911.2:n.103G>C
NR_148912.2:n.103G>C
NR_148915.2:n.103G>C