Canonical Allele Identifier: CA4814706

Gene: NDUFAF6

Linked Data

• ClinVar Variation Id: 2386584
• ClinVar RCV Id: RCV002724705
• dbSNP Id: rs372973430
• ExAC: 8:96044227 C / T
• gnomAD v2: 8-96044227-C-T
• gnomAD v3: 8-95031999-C-T
• gnomAD v4: 8-95031999-C-T
• COSMIC: COSM3902228
• MyVariant Identifiers: chr8:g.96044227C>T (hg19) ; chr8:g.95031999C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.95031999C>T , CM000670.2:g.95031999C>T	GRCh38
NC_000008.10:g.96044227C>T , CM000670.1:g.96044227C>T	GRCh37
NC_000008.9:g.96113403C>T	NCBI36
NG_016647.1:g.12007C>T
NG_016647.2:g.141729C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000519804.2:c.202C>T	ENSP00000430230.2:p.Arg68Trp
ENST00000697355.1:c.-79C>T	ENSP00000513277.1:n.-79C>T
ENST00000697364.1:c.-79C>T	ENSP00000513278.1:n.-79C>T
ENST00000396124.9:c.202C>T MANE Select	ENSP00000379430.4:p.Arg68Trp
ENST00000396111.6:c.-79C>T	ENSP00000379417.1:n.-79C>T
ENST00000396113.5:c.-79C>T	ENSP00000379419.1:n.-79C>T
ENST00000396124.8:c.202C>T	ENSP00000379430.4:p.Arg68Trp
ENST00000454358.6:c.143C>T
ENST00000517976.5:c.190C>T	ENSP00000430099.1:p.Arg64Trp
ENST00000518258.5:c.202C>T	ENSP00000428788.1:p.Arg68Trp
ENST00000518608.5:c.139-3455C>T
ENST00000519136.5:c.-251C>T	ENSP00000429585.1:n.-251C>T
ENST00000520632.5:c.178C>T	ENSP00000428666.1:p.Arg60Trp
ENST00000520757.1:c.143C>T
ENST00000522683.5:c.145C>T	ENSP00000430991.1:p.Arg49Trp
ENST00000523337.5:c.202C>T	ENSP00000429038.1:p.Arg68Trp
ENST00000523378.5:c.-79C>T	ENSP00000428034.1:n.-79C>T
NM_152416.3:c.202C>T	NP_689629.2:p.Arg68Trp
XM_005250789.1:c.-79C>T	XP_005250846.1:n.-79C>T
XM_005250790.1:c.-251C>T	XP_005250847.1:n.-251C>T
XM_005250791.1:c.-379C>T	XP_005250848.1:n.-379C>T
XM_005250792.1:c.-383C>T	XP_005250849.1:n.-383C>T
XM_005250793.1:c.-452C>T	XP_005250850.1:n.-452C>T
XM_011516833.1:c.46C>T	XP_011515135.1:p.Arg16Trp
XM_011516834.1:c.46C>T	XP_011515136.1:p.Arg16Trp
XM_011516835.1:c.46C>T	XP_011515137.1:p.Arg16Trp
XM_011516836.1:c.46C>T	XP_011515138.1:p.Arg16Trp
XM_011516837.1:c.46C>T	XP_011515139.1:p.Arg16Trp
XM_011516838.1:c.46C>T	XP_011515140.1:p.Arg16Trp
XM_011516839.1:c.46C>T	XP_011515141.1:p.Arg16Trp
XM_011516840.1:c.46C>T	XP_011515142.1:p.Arg16Trp
XM_011516841.1:c.46C>T	XP_011515143.1:p.Arg16Trp
XM_011516842.1:c.46C>T	XP_011515144.1:p.Arg16Trp
XM_011516843.1:c.-79C>T	XP_011515145.1:n.-79C>T
XM_011516844.1:c.-164C>T	XP_011515146.1:n.-164C>T
NM_001330582.1:c.-79C>T	NP_001317511.1:n.-79C>T
NM_001354514.1:c.-79C>T	NP_001341443.1:n.-79C>T
NM_001354515.1:c.-79C>T	NP_001341444.1:n.-79C>T
NM_001354516.1:c.46C>T	NP_001341445.1:p.Arg16Trp
NM_001354517.1:c.-36-3455C>T	NP_001341446.1:n.-36-3455C>T
NM_001354518.1:c.-251C>T	NP_001341447.1:n.-251C>T
NM_001354519.1:c.-247C>T	NP_001341448.1:n.-247C>T
NM_001354521.1:c.-79C>T	NP_001341450.1:n.-79C>T
NM_001354522.1:c.-379C>T	NP_001341451.1:n.-379C>T
NM_001354524.1:c.-452C>T	NP_001341453.1:n.-452C>T
NM_001354525.1:c.-452C>T	NP_001341454.1:n.-452C>T
NM_001354527.1:c.-596C>T	NP_001341456.1:n.-596C>T
NM_001354528.1:c.-567C>T	NP_001341457.1:n.-567C>T
NM_001354529.1:c.-379C>T	NP_001341458.1:n.-379C>T
NM_001354530.1:c.-481C>T	NP_001341459.1:n.-481C>T
NM_001354531.1:c.-477C>T	NP_001341460.1:n.-477C>T
NM_001354532.1:c.-485C>T	NP_001341461.1:n.-485C>T
NM_001354533.1:c.-448C>T	NP_001341462.1:n.-448C>T
NM_001354534.1:c.-132C>T	NP_001341463.1:n.-132C>T
NR_148910.1:n.236C>T
NR_148911.1:n.236C>T
NR_148912.1:n.236C>T
NR_148913.1:n.236C>T
NR_148914.1:n.236C>T
NR_148915.1:n.236C>T
XM_005250792.2:c.-383C>T	XP_005250849.1:n.-383C>T
XM_005250793.3:c.-452C>T	XP_005250850.1:n.-452C>T
XM_011516833.2:c.46C>T	XP_011515135.1:p.Arg16Trp
XM_011516834.2:c.46C>T	XP_011515136.1:p.Arg16Trp
XM_011516835.2:c.46C>T	XP_011515137.1:p.Arg16Trp
XM_011516836.2:c.46C>T	XP_011515138.1:p.Arg16Trp
XM_011516837.2:c.46C>T	XP_011515139.1:p.Arg16Trp
XM_011516838.2:c.46C>T	XP_011515140.1:p.Arg16Trp
XM_011516839.2:c.46C>T	XP_011515141.1:p.Arg16Trp
XM_011516840.2:c.46C>T	XP_011515142.1:p.Arg16Trp
XM_011516841.2:c.46C>T	XP_011515143.1:p.Arg16Trp
XM_011516842.2:c.46C>T	XP_011515144.1:p.Arg16Trp
XM_017013027.2:c.46C>T	XP_016868516.1:p.Arg16Trp
XM_017013028.1:c.46C>T	XP_016868517.1:p.Arg16Trp
XM_017013029.1:c.46C>T	XP_016868518.1:p.Arg16Trp
XM_017013033.2:c.-79C>T	XP_016868522.1:n.-79C>T
XM_024447062.1:c.-132C>T	XP_024302830.1:n.-132C>T
NM_152416.4:c.202C>T MANE Select	NP_689629.2:p.Arg68Trp
NR_148913.2:n.222C>T
NR_148914.2:n.222C>T
NM_001330582.2:c.-79C>T	NP_001317511.1:n.-79C>T
NM_001354514.2:c.-79C>T	NP_001341443.1:n.-79C>T
NM_001354515.2:c.-79C>T	NP_001341444.1:n.-79C>T
NM_001354516.2:c.46C>T	NP_001341445.1:p.Arg16Trp
NM_001354517.2:c.-36-3455C>T	NP_001341446.1:n.-36-3455C>T
NM_001354518.2:c.-251C>T	NP_001341447.1:n.-251C>T
NM_001354519.2:c.-247C>T	NP_001341448.1:n.-247C>T
NM_001354521.2:c.-79C>T	NP_001341450.1:n.-79C>T
NM_001354522.2:c.-379C>T	NP_001341451.1:n.-379C>T
NM_001354524.2:c.-452C>T	NP_001341453.1:n.-452C>T
NM_001354525.2:c.-452C>T	NP_001341454.1:n.-452C>T
NM_001354527.2:c.-596C>T	NP_001341456.1:n.-596C>T
NM_001354528.2:c.-567C>T	NP_001341457.1:n.-567C>T
NM_001354529.2:c.-379C>T	NP_001341458.1:n.-379C>T
NM_001354530.2:c.-481C>T	NP_001341459.1:n.-481C>T
NM_001354531.2:c.-477C>T	NP_001341460.1:n.-477C>T
NM_001354532.2:c.-485C>T	NP_001341461.1:n.-485C>T
NM_001354533.2:c.-448C>T	NP_001341462.1:n.-448C>T
NM_001354534.2:c.-132C>T	NP_001341463.1:n.-132C>T
NR_148910.2:n.222C>T
NR_148911.2:n.222C>T
NR_148912.2:n.222C>T
NR_148915.2:n.222C>T