Canonical Allele Identifier: CA359719649

Gene: NDUFS4

Linked Data

• gnomAD v4: 5-53646288-G-A
• COSMIC: COSM5403605
• MyVariant Identifiers: chr5:g.52942118G>A (hg19) ; chr5:g.53646288G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.53646288G>A , CM000667.2:g.53646288G>A	GRCh38
NC_000005.9:g.52942118G>A , CM000667.1:g.52942118G>A	GRCh37
NC_000005.8:g.52977875G>A	NCBI36
NG_008200.1:g.90654G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000296684.10:c.233G>A MANE Select	ENSP00000296684.5:p.Arg78Lys
ENST00000296684.9:c.233G>A	ENSP00000296684.5:p.Arg78Lys
ENST00000502423.5:c.*100G>A	ENSP00000422177.1:n.*100G>A
ENST00000506765.1:c.221G>A	ENSP00000424570.1:p.Arg74Lys
ENST00000506974.5:c.*9G>A	ENSP00000425967.1:n.*9G>A
ENST00000507026.5:c.*207G>A	ENSP00000424993.1:n.*207G>A
ENST00000509443.1:n.94G>A
NM_002495.2:c.233G>A	NP_002486.1:p.Arg78Lys
XM_005248525.3:c.233G>A	XP_005248582.1:p.Arg78Lys
XM_011543415.1:c.59G>A	XP_011541717.1:p.Arg20Lys
NM_001318051.1:c.233G>A	NP_001304980.1:p.Arg78Lys
NM_002495.3:c.233G>A	NP_002486.1:p.Arg78Lys
NR_134473.1:n.435G>A
NR_134474.1:n.352G>A
NR_134475.1:n.387G>A
NM_002495.4:c.233G>A MANE Select	NP_002486.1:p.Arg78Lys
NM_001318051.2:c.233G>A	NP_001304980.1:p.Arg78Lys
NR_134473.2:n.429G>A
NR_134474.2:n.346G>A
NR_134475.2:n.381G>A