Canonical Allele Identifier: CA359719237

Gene: NDUFS4

Linked Data

• MyVariant Identifiers: chr5:g.52954440T>G (hg19) ; chr5:g.53658610T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.53658610T>G , CM000667.2:g.53658610T>G	GRCh38
NC_000005.9:g.52954440T>G , CM000667.1:g.52954440T>G	GRCh37
NC_000005.8:g.52990197T>G	NCBI36
NG_008200.1:g.102976T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000296684.10:c.410T>G MANE Select	ENSP00000296684.5:p.Phe137Cys
ENST00000296684.9:c.410T>G	ENSP00000296684.5:p.Phe137Cys
ENST00000502423.5:c.*277T>G	ENSP00000422177.1:n.*277T>G
ENST00000506765.1:c.338+12205T>G	ENSP00000424570.1:n.338+12205T>G
ENST00000506974.5:c.*186T>G	ENSP00000425967.1:n.*186T>G
ENST00000507026.5:c.*384T>G	ENSP00000424993.1:n.*384T>G
ENST00000509443.1:n.271T>G
NM_002495.2:c.410T>G	NP_002486.1:p.Phe137Cys
XM_005248525.3:c.350+12205T>G	XP_005248582.1:n.350+12205T>G
XM_011543415.1:c.236T>G	XP_011541717.1:p.Phe79Cys
NM_001318051.1:c.350+12205T>G	NP_001304980.1:n.350+12205T>G
NM_002495.3:c.410T>G	NP_002486.1:p.Phe137Cys
NR_134473.1:n.612T>G
NR_134474.1:n.529T>G
NR_134475.1:n.564T>G
NM_002495.4:c.410T>G MANE Select	NP_002486.1:p.Phe137Cys
NM_001318051.2:c.350+12205T>G	NP_001304980.1:n.350+12205T>G
NR_134473.2:n.606T>G
NR_134474.2:n.523T>G
NR_134475.2:n.558T>G