Canonical Allele Identifier: CA359719687

Gene: NDUFS4

Linked Data

• gnomAD v4: 5-53646305-C-A
• MyVariant Identifiers: chr5:g.52942135C>A (hg19) ; chr5:g.53646305C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.53646305C>A , CM000667.2:g.53646305C>A	GRCh38
NC_000005.9:g.52942135C>A , CM000667.1:g.52942135C>A	GRCh37
NC_000005.8:g.52977892C>A	NCBI36
NG_008200.1:g.90671C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000296684.10:c.250C>A MANE Select	ENSP00000296684.5:p.Arg84Ser
ENST00000296684.9:c.250C>A	ENSP00000296684.5:p.Arg84Ser
ENST00000502423.5:c.*117C>A	ENSP00000422177.1:n.*117C>A
ENST00000506765.1:c.238C>A	ENSP00000424570.1:p.Arg80Ser
ENST00000506974.5:c.*26C>A	ENSP00000425967.1:n.*26C>A
ENST00000507026.5:c.*224C>A	ENSP00000424993.1:n.*224C>A
ENST00000509443.1:n.111C>A
NM_002495.2:c.250C>A	NP_002486.1:p.Arg84Ser
XM_005248525.3:c.250C>A	XP_005248582.1:p.Arg84Ser
XM_011543415.1:c.76C>A	XP_011541717.1:p.Arg26Ser
NM_001318051.1:c.250C>A	NP_001304980.1:p.Arg84Ser
NM_002495.3:c.250C>A	NP_002486.1:p.Arg84Ser
NR_134473.1:n.452C>A
NR_134474.1:n.369C>A
NR_134475.1:n.404C>A
NM_002495.4:c.250C>A MANE Select	NP_002486.1:p.Arg84Ser
NM_001318051.2:c.250C>A	NP_001304980.1:p.Arg84Ser
NR_134473.2:n.446C>A
NR_134474.2:n.363C>A
NR_134475.2:n.398C>A