Canonical Allele Identifier: CA359719174

Gene: NDUFS4

Linked Data

• MyVariant Identifiers: chr5:g.52954412T>G (hg19) ; chr5:g.53658582T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.53658582T>G , CM000667.2:g.53658582T>G	GRCh38
NC_000005.9:g.52954412T>G , CM000667.1:g.52954412T>G	GRCh37
NC_000005.8:g.52990169T>G	NCBI36
NG_008200.1:g.102948T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000296684.10:c.382T>G MANE Select	ENSP00000296684.5:p.Phe128Val
ENST00000296684.9:c.382T>G	ENSP00000296684.5:p.Phe128Val
ENST00000502423.5:c.*249T>G	ENSP00000422177.1:n.*249T>G
ENST00000506765.1:c.338+12177T>G	ENSP00000424570.1:n.338+12177T>G
ENST00000506974.5:c.*158T>G	ENSP00000425967.1:n.*158T>G
ENST00000507026.5:c.*356T>G	ENSP00000424993.1:n.*356T>G
ENST00000509443.1:n.243T>G
NM_002495.2:c.382T>G	NP_002486.1:p.Phe128Val
XM_005248525.3:c.350+12177T>G	XP_005248582.1:n.350+12177T>G
XM_011543415.1:c.208T>G	XP_011541717.1:p.Phe70Val
NM_001318051.1:c.350+12177T>G	NP_001304980.1:n.350+12177T>G
NM_002495.3:c.382T>G	NP_002486.1:p.Phe128Val
NR_134473.1:n.584T>G
NR_134474.1:n.501T>G
NR_134475.1:n.536T>G
NM_002495.4:c.382T>G MANE Select	NP_002486.1:p.Phe128Val
NM_001318051.2:c.350+12177T>G	NP_001304980.1:n.350+12177T>G
NR_134473.2:n.578T>G
NR_134474.2:n.495T>G
NR_134475.2:n.530T>G