Canonical Allele Identifier: CA359719688

Gene: NDUFS4

Linked Data

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

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000296684.10:c.250C>G MANE Select	ENSP00000296684.5:p.Arg84Gly
ENST00000296684.9:c.250C>G	ENSP00000296684.5:p.Arg84Gly
ENST00000502423.5:c.*117C>G	ENSP00000422177.1:n.*117C>G
ENST00000506765.1:c.238C>G	ENSP00000424570.1:p.Arg80Gly
ENST00000506974.5:c.*26C>G	ENSP00000425967.1:n.*26C>G
ENST00000507026.5:c.*224C>G	ENSP00000424993.1:n.*224C>G
ENST00000509443.1:n.111C>G
NM_002495.2:c.250C>G	NP_002486.1:p.Arg84Gly
XM_005248525.3:c.250C>G	XP_005248582.1:p.Arg84Gly
XM_011543415.1:c.76C>G	XP_011541717.1:p.Arg26Gly
NM_001318051.1:c.250C>G	NP_001304980.1:p.Arg84Gly
NM_002495.3:c.250C>G	NP_002486.1:p.Arg84Gly
NR_134473.1:n.452C>G
NR_134474.1:n.369C>G
NR_134475.1:n.404C>G
NM_002495.4:c.250C>G MANE Select	NP_002486.1:p.Arg84Gly
NM_001318051.2:c.250C>G	NP_001304980.1:p.Arg84Gly
NR_134473.2:n.446C>G
NR_134474.2:n.363C>G
NR_134475.2:n.398C>G