Canonical Allele Identifier: CA359719607

Gene: NDUFS4

Linked Data

• MyVariant Identifiers: chr5:g.52942098T>G (hg19) ; chr5:g.53646268T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.53646268T>G , CM000667.2:g.53646268T>G	GRCh38
NC_000005.9:g.52942098T>G , CM000667.1:g.52942098T>G	GRCh37
NC_000005.8:g.52977855T>G	NCBI36
NG_008200.1:g.90634T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000296684.10:c.213T>G MANE Select	ENSP00000296684.5:p.His71Gln
ENST00000296684.9:c.213T>G	ENSP00000296684.5:p.His71Gln
ENST00000502423.5:c.*80T>G	ENSP00000422177.1:n.*80T>G
ENST00000506765.1:c.201T>G	ENSP00000424570.1:p.His67Gln
ENST00000506974.5:c.385T>G	ENSP00000425967.1:p.Tyr129Asp
ENST00000507026.5:c.*187T>G	ENSP00000424993.1:n.*187T>G
ENST00000509443.1:n.74T>G
NM_002495.2:c.213T>G	NP_002486.1:p.His71Gln
XM_005248525.3:c.213T>G	XP_005248582.1:p.His71Gln
XM_011543415.1:c.39T>G	XP_011541717.1:p.His13Gln
NM_001318051.1:c.213T>G	NP_001304980.1:p.His71Gln
NM_002495.3:c.213T>G	NP_002486.1:p.His71Gln
NR_134473.1:n.415T>G
NR_134474.1:n.332T>G
NR_134475.1:n.367T>G
NM_002495.4:c.213T>G MANE Select	NP_002486.1:p.His71Gln
NM_001318051.2:c.213T>G	NP_001304980.1:p.His71Gln
NR_134473.2:n.409T>G
NR_134474.2:n.326T>G
NR_134475.2:n.361T>G