Canonical Allele Identifier: CA2739274731

Gene: NDUFS4

Linked Data

• ClinVar Variation Id: 2833555
• ClinVar RCV Id: RCV003692037

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.53658638del , CM000667.2:g.53658638del	GRCh38
NC_000005.9:g.52954468del , CM000667.1:g.52954468del	GRCh37
NC_000005.8:g.52990225del	NCBI36
NG_008200.1:g.103004del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000296684.10:c.424+14del MANE Select	ENSP00000296684.5:n.424+14del
ENST00000296684.9:c.424+14del	ENSP00000296684.5:n.424+14del
ENST00000502423.5:c.*291+14del	ENSP00000422177.1:n.*291+14del
ENST00000506765.1:c.338+12233del	ENSP00000424570.1:n.338+12233del
ENST00000506974.5:c.*200+14del	ENSP00000425967.1:n.*200+14del
ENST00000507026.5:c.*398+14del	ENSP00000424993.1:n.*398+14del
ENST00000509443.1:n.299del
NM_002495.2:c.424+14del	NP_002486.1:n.424+14del
XM_005248525.3:c.350+12233del	XP_005248582.1:n.350+12233del
XM_011543415.1:c.250+14del	XP_011541717.1:n.250+14del
NM_001318051.1:c.350+12233del	NP_001304980.1:n.350+12233del
NM_002495.3:c.424+14del	NP_002486.1:n.424+14del
NR_134473.1:n.626+14del
NR_134474.1:n.543+14del
NR_134475.1:n.578+14del
NM_002495.4:c.424+14del MANE Select	NP_002486.1:n.424+14del
NM_001318051.2:c.350+12233del	NP_001304980.1:n.350+12233del
NR_134473.2:n.620+14del
NR_134474.2:n.537+14del
NR_134475.2:n.572+14del