Canonical Allele Identifier: CA4814824

Gene: NDUFAF6

Linked Data

• ClinVar Variation Id: 3187623
• ClinVar RCV Id: RCV004477466
• dbSNP Id: rs576681448
• ExAC: 8:96057801 G / T
• gnomAD v2: 8-96057801-G-T
• gnomAD v3: 8-95045573-G-T
• gnomAD v4: 8-95045573-G-T
• MyVariant Identifiers: chr8:g.96057801G>T (hg19) ; chr8:g.95045573G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.95045573G>T , CM000670.2:g.95045573G>T	GRCh38
NC_000008.10:g.96057801G>T , CM000670.1:g.96057801G>T	GRCh37
NC_000008.9:g.96126977G>T	NCBI36
NG_016647.1:g.25581G>T
NG_016647.2:g.155303G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000519804.2:c.*300G>T	ENSP00000430230.2:n.*300G>T
ENST00000697355.1:c.*276G>T	ENSP00000513277.1:n.*276G>T
ENST00000697364.1:c.230G>T	ENSP00000513278.1:p.Arg77Leu
ENST00000396124.9:c.506G>T MANE Select	ENSP00000379430.4:p.Arg169Leu
ENST00000396111.6:c.230G>T	ENSP00000379417.1:p.Arg77Leu
ENST00000396113.5:c.230G>T	ENSP00000379419.1:p.Arg77Leu
ENST00000396124.8:c.506G>T	ENSP00000379430.4:p.Arg169Leu
ENST00000454358.6:c.451G>T
ENST00000517976.5:c.691G>T	ENSP00000430099.1:n.691G>T
ENST00000518258.5:c.*481G>T	ENSP00000428788.1:n.*481G>T
ENST00000518608.5:c.466G>T
ENST00000519136.5:c.173G>T	ENSP00000429585.1:p.Arg58Leu
ENST00000519804.1:c.173G>T	ENSP00000430230.1:p.Arg58Leu
ENST00000520632.5:c.729G>T	ENSP00000428666.1:n.729G>T
ENST00000520757.1:c.571G>T
ENST00000523337.5:c.*259G>T	ENSP00000429038.1:n.*259G>T
ENST00000523378.5:c.230G>T	ENSP00000428034.1:p.Arg77Leu
NM_152416.3:c.506G>T	NP_689629.2:p.Arg169Leu
XM_005250789.1:c.230G>T	XP_005250846.1:p.Arg77Leu
XM_005250790.1:c.173G>T	XP_005250847.1:p.Arg58Leu
XM_005250791.1:c.50G>T	XP_005250848.1:p.Arg17Leu
XM_005250792.1:c.50G>T	XP_005250849.1:p.Arg17Leu
XM_005250793.1:c.50G>T	XP_005250850.1:p.Arg17Leu
XM_011516833.1:c.350G>T	XP_011515135.1:p.Arg117Leu
XM_011516834.1:c.350G>T	XP_011515136.1:p.Arg117Leu
XM_011516835.1:c.350G>T	XP_011515137.1:p.Arg117Leu
XM_011516836.1:c.350G>T	XP_011515138.1:p.Arg117Leu
XM_011516837.1:c.350G>T	XP_011515139.1:p.Arg117Leu
XM_011516838.1:c.350G>T	XP_011515140.1:p.Arg117Leu
XM_011516839.1:c.350G>T	XP_011515141.1:p.Arg117Leu
XM_011516840.1:c.350G>T	XP_011515142.1:p.Arg117Leu
XM_011516841.1:c.350G>T	XP_011515143.1:p.Arg117Leu
XM_011516842.1:c.350G>T	XP_011515144.1:p.Arg117Leu
XM_011516843.1:c.230G>T	XP_011515145.1:p.Arg77Leu
XM_011516844.1:c.173G>T	XP_011515146.1:p.Arg58Leu
NM_001330582.1:c.230G>T	NP_001317511.1:p.Arg77Leu
NM_001354514.1:c.230G>T	NP_001341443.1:p.Arg77Leu
NM_001354515.1:c.230G>T	NP_001341444.1:p.Arg77Leu
NM_001354516.1:c.350G>T	NP_001341445.1:p.Arg117Leu
NM_001354517.1:c.173G>T	NP_001341446.1:p.Arg58Leu
NM_001354518.1:c.173G>T	NP_001341447.1:p.Arg58Leu
NM_001354519.1:c.173G>T	NP_001341448.1:p.Arg58Leu
NM_001354521.1:c.230G>T	NP_001341450.1:p.Arg77Leu
NM_001354522.1:c.50G>T	NP_001341451.1:p.Arg17Leu
NM_001354524.1:c.50G>T	NP_001341453.1:p.Arg17Leu
NM_001354525.1:c.50G>T	NP_001341454.1:p.Arg17Leu
NM_001354527.1:c.50G>T	NP_001341456.1:p.Arg17Leu
NM_001354528.1:c.50G>T	NP_001341457.1:p.Arg17Leu
NM_001354529.1:c.50G>T	NP_001341458.1:p.Arg17Leu
NM_001354530.1:c.50G>T	NP_001341459.1:p.Arg17Leu
NM_001354531.1:c.50G>T	NP_001341460.1:p.Arg17Leu
NM_001354532.1:c.50G>T	NP_001341461.1:p.Arg17Leu
NM_001354533.1:c.50G>T	NP_001341462.1:p.Arg17Leu
NM_001354534.1:c.173G>T	NP_001341463.1:p.Arg58Leu
NR_148910.1:n.659G>T
NR_148911.1:n.659G>T
NR_148912.1:n.663G>T
NR_148913.1:n.540G>T
NR_148914.1:n.737G>T
NR_148915.1:n.664G>T
XM_005250792.2:c.50G>T	XP_005250849.1:p.Arg17Leu
XM_005250793.3:c.50G>T	XP_005250850.1:p.Arg17Leu
XM_011516833.2:c.350G>T	XP_011515135.1:p.Arg117Leu
XM_011516834.2:c.350G>T	XP_011515136.1:p.Arg117Leu
XM_011516835.2:c.350G>T	XP_011515137.1:p.Arg117Leu
XM_011516836.2:c.350G>T	XP_011515138.1:p.Arg117Leu
XM_011516837.2:c.350G>T	XP_011515139.1:p.Arg117Leu
XM_011516838.2:c.350G>T	XP_011515140.1:p.Arg117Leu
XM_011516839.2:c.350G>T	XP_011515141.1:p.Arg117Leu
XM_011516840.2:c.350G>T	XP_011515142.1:p.Arg117Leu
XM_011516841.2:c.350G>T	XP_011515143.1:p.Arg117Leu
XM_011516842.2:c.350G>T	XP_011515144.1:p.Arg117Leu
XM_017013027.2:c.350G>T	XP_016868516.1:p.Arg117Leu
XM_017013028.1:c.350G>T	XP_016868517.1:p.Arg117Leu
XM_017013029.1:c.350G>T	XP_016868518.1:p.Arg117Leu
XM_017013033.2:c.230G>T	XP_016868522.1:p.Arg77Leu
XM_017013034.1:c.173G>T	XP_016868523.1:p.Arg58Leu
XM_024447062.1:c.173G>T	XP_024302830.1:p.Arg58Leu
NM_152416.4:c.506G>T MANE Select	NP_689629.2:p.Arg169Leu
NR_148913.2:n.526G>T
NR_148914.2:n.723G>T
NM_001330582.2:c.230G>T	NP_001317511.1:p.Arg77Leu
NM_001354514.2:c.230G>T	NP_001341443.1:p.Arg77Leu
NM_001354515.2:c.230G>T	NP_001341444.1:p.Arg77Leu
NM_001354516.2:c.350G>T	NP_001341445.1:p.Arg117Leu
NM_001354517.2:c.173G>T	NP_001341446.1:p.Arg58Leu
NM_001354518.2:c.173G>T	NP_001341447.1:p.Arg58Leu
NM_001354519.2:c.173G>T	NP_001341448.1:p.Arg58Leu
NM_001354521.2:c.230G>T	NP_001341450.1:p.Arg77Leu
NM_001354522.2:c.50G>T	NP_001341451.1:p.Arg17Leu
NM_001354524.2:c.50G>T	NP_001341453.1:p.Arg17Leu
NM_001354525.2:c.50G>T	NP_001341454.1:p.Arg17Leu
NM_001354527.2:c.50G>T	NP_001341456.1:p.Arg17Leu
NM_001354528.2:c.50G>T	NP_001341457.1:p.Arg17Leu
NM_001354529.2:c.50G>T	NP_001341458.1:p.Arg17Leu
NM_001354530.2:c.50G>T	NP_001341459.1:p.Arg17Leu
NM_001354531.2:c.50G>T	NP_001341460.1:p.Arg17Leu
NM_001354532.2:c.50G>T	NP_001341461.1:p.Arg17Leu
NM_001354533.2:c.50G>T	NP_001341462.1:p.Arg17Leu
NM_001354534.2:c.173G>T	NP_001341463.1:p.Arg58Leu
NR_148910.2:n.645G>T
NR_148911.2:n.645G>T
NR_148912.2:n.649G>T
NR_148915.2:n.650G>T