Canonical Allele Identifier: CA2697547179

Gene: NDUFS4

Linked Data

• ClinVar Variation Id: 2758562
• ClinVar RCV Id: RCV003569760

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.53646234dup , CM000667.2:g.53646234dup	GRCh38
NC_000005.9:g.52942064dup , CM000667.1:g.52942064dup	GRCh37
NC_000005.8:g.52977821dup	NCBI36
NG_008200.1:g.90600dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000296684.10:c.179dup MANE Select	ENSP00000296684.5:p.Asp60GlufsTer16
ENST00000296684.9:c.179dup	ENSP00000296684.5:p.Asp60GlufsTer16
ENST00000502423.5:c.*46dup	ENSP00000422177.1:n.*46dup
ENST00000506765.1:c.167dup	ENSP00000424570.1:p.Asp56GlufsTer16
ENST00000506974.5:c.351dup	ENSP00000425967.1:p.Tyr118IlefsTer5
ENST00000507026.5:c.*153dup	ENSP00000424993.1:n.*153dup
ENST00000509443.1:n.40dup
NM_002495.2:c.179dup	NP_002486.1:p.Asp60GlufsTer16
XM_005248525.3:c.179dup	XP_005248582.1:p.Asp60GlufsTer16
XM_011543415.1:c.5dup	XP_011541717.1:p.Asp2GlufsTer16
NM_001318051.1:c.179dup	NP_001304980.1:p.Asp60GlufsTer16
NM_002495.3:c.179dup	NP_002486.1:p.Asp60GlufsTer16
NR_134473.1:n.381dup
NR_134474.1:n.298dup
NR_134475.1:n.333dup
NM_002495.4:c.179dup MANE Select	NP_002486.1:p.Asp60GlufsTer16
NM_001318051.2:c.179dup	NP_001304980.1:p.Asp60GlufsTer16
NR_134473.2:n.375dup
NR_134474.2:n.292dup
NR_134475.2:n.327dup