Canonical Allele Identifier: CA359719600

Gene: NDUFS4

Linked Data

• COSMIC: COSM1068699
• MyVariant Identifiers: chr5:g.52942095G>T (hg19) ; chr5:g.53646265G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.53646265G>T , CM000667.2:g.53646265G>T	GRCh38
NC_000005.9:g.52942095G>T , CM000667.1:g.52942095G>T	GRCh37
NC_000005.8:g.52977852G>T	NCBI36
NG_008200.1:g.90631G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000296684.10:c.210G>T MANE Select	ENSP00000296684.5:p.Glu70Asp
ENST00000296684.9:c.210G>T	ENSP00000296684.5:p.Glu70Asp
ENST00000502423.5:c.*77G>T	ENSP00000422177.1:n.*77G>T
ENST00000506765.1:c.198G>T	ENSP00000424570.1:p.Glu66Asp
ENST00000506974.5:c.382G>T	ENSP00000425967.1:p.Ala128Ser
ENST00000507026.5:c.*184G>T	ENSP00000424993.1:n.*184G>T
ENST00000509443.1:n.71G>T
NM_002495.2:c.210G>T	NP_002486.1:p.Glu70Asp
XM_005248525.3:c.210G>T	XP_005248582.1:p.Glu70Asp
XM_011543415.1:c.36G>T	XP_011541717.1:p.Glu12Asp
NM_001318051.1:c.210G>T	NP_001304980.1:p.Glu70Asp
NM_002495.3:c.210G>T	NP_002486.1:p.Glu70Asp
NR_134473.1:n.412G>T
NR_134474.1:n.329G>T
NR_134475.1:n.364G>T
NM_002495.4:c.210G>T MANE Select	NP_002486.1:p.Glu70Asp
NM_001318051.2:c.210G>T	NP_001304980.1:p.Glu70Asp
NR_134473.2:n.406G>T
NR_134474.2:n.323G>T
NR_134475.2:n.358G>T