Canonical Allele Identifier: CA3264129

Gene: NDUFS4

Linked Data

• ClinVar Variation Id: 2676991
• ClinVar RCV Id: RCV003471394 ; RCV003565680
• dbSNP Id: rs769106495
• ExAC: 5:52856517 GT / G
• MyVariant Identifiers: chr5:g.52856518del (hg19) ; chr5:g.53560688del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.53560688del , CM000667.2:g.53560688del	GRCh38
NC_000005.9:g.52856518del , CM000667.1:g.52856518del	GRCh37
NC_000005.8:g.52892275del	NCBI36
NG_008200.1:g.5054del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000296684.10:c.26del MANE Select	ENSP00000296684.5:p.Val9AspfsTer2
ENST00000296684.9:c.26del	ENSP00000296684.5:p.Val9AspfsTer2
ENST00000502423.5:c.26del	ENSP00000422177.1:p.Val9AspfsTer2
ENST00000506765.1:c.14del	ENSP00000424570.1:p.Val5AspfsTer2
ENST00000506974.5:c.26del	ENSP00000425967.1:p.Val9AspfsTer2
ENST00000507026.5:c.26del	ENSP00000424993.1:p.Val9AspfsTer2
NM_002495.2:c.26del	NP_002486.1:p.Val9AspfsTer2
XM_005248525.3:c.26del	XP_005248582.1:p.Val9AspfsTer2
XM_011543414.1:c.26del	XP_011541716.1:p.Val9AspfsTer2
NM_001318051.1:c.26del	NP_001304980.1:p.Val9AspfsTer2
NM_002495.3:c.26del	NP_002486.1:p.Val9AspfsTer2
NR_134473.1:n.56del
NR_134474.1:n.56del
NR_134475.1:n.56del
XM_017009491.1:c.26del	XP_016864980.1:p.Val9AspfsTer2
NM_002495.4:c.26del MANE Select	NP_002486.1:p.Val9AspfsTer2
NM_001318051.2:c.26del	NP_001304980.1:p.Val9AspfsTer2
NR_134473.2:n.50del
NR_134474.2:n.50del
NR_134475.2:n.50del