Canonical Allele Identifier: CA359719175

Gene: NDUFS4

Linked Data

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

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000296684.10:c.382T>C MANE Select	ENSP00000296684.5:p.Phe128Leu
ENST00000296684.9:c.382T>C	ENSP00000296684.5:p.Phe128Leu
ENST00000502423.5:c.*249T>C	ENSP00000422177.1:n.*249T>C
ENST00000506765.1:c.338+12177T>C	ENSP00000424570.1:n.338+12177T>C
ENST00000506974.5:c.*158T>C	ENSP00000425967.1:n.*158T>C
ENST00000507026.5:c.*356T>C	ENSP00000424993.1:n.*356T>C
ENST00000509443.1:n.243T>C
NM_002495.2:c.382T>C	NP_002486.1:p.Phe128Leu
XM_005248525.3:c.350+12177T>C	XP_005248582.1:n.350+12177T>C
XM_011543415.1:c.208T>C	XP_011541717.1:p.Phe70Leu
NM_001318051.1:c.350+12177T>C	NP_001304980.1:n.350+12177T>C
NM_002495.3:c.382T>C	NP_002486.1:p.Phe128Leu
NR_134473.1:n.584T>C
NR_134474.1:n.501T>C
NR_134475.1:n.536T>C
NM_002495.4:c.382T>C MANE Select	NP_002486.1:p.Phe128Leu
NM_001318051.2:c.350+12177T>C	NP_001304980.1:n.350+12177T>C
NR_134473.2:n.578T>C
NR_134474.2:n.495T>C
NR_134475.2:n.530T>C