Canonical Allele Identifier: CA359719624

Gene: NDUFS4

Linked Data

• MyVariant Identifiers: chr5:g.52942106C>A (hg19) ; chr5:g.53646276C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.53646276C>A , CM000667.2:g.53646276C>A	GRCh38
NC_000005.9:g.52942106C>A , CM000667.1:g.52942106C>A	GRCh37
NC_000005.8:g.52977863C>A	NCBI36
NG_008200.1:g.90642C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000296684.10:c.221C>A MANE Select	ENSP00000296684.5:p.Thr74Asn
ENST00000296684.9:c.221C>A	ENSP00000296684.5:p.Thr74Asn
ENST00000502423.5:c.*88C>A	ENSP00000422177.1:n.*88C>A
ENST00000506765.1:c.209C>A	ENSP00000424570.1:p.Thr70Asn
ENST00000506974.5:c.393C>A	ENSP00000425967.1:p.Asn131Lys
ENST00000507026.5:c.*195C>A	ENSP00000424993.1:n.*195C>A
ENST00000509443.1:n.82C>A
NM_002495.2:c.221C>A	NP_002486.1:p.Thr74Asn
XM_005248525.3:c.221C>A	XP_005248582.1:p.Thr74Asn
XM_011543415.1:c.47C>A	XP_011541717.1:p.Thr16Asn
NM_001318051.1:c.221C>A	NP_001304980.1:p.Thr74Asn
NM_002495.3:c.221C>A	NP_002486.1:p.Thr74Asn
NR_134473.1:n.423C>A
NR_134474.1:n.340C>A
NR_134475.1:n.375C>A
NM_002495.4:c.221C>A MANE Select	NP_002486.1:p.Thr74Asn
NM_001318051.2:c.221C>A	NP_001304980.1:p.Thr74Asn
NR_134473.2:n.417C>A
NR_134474.2:n.334C>A
NR_134475.2:n.369C>A