Canonical Allele Identifier: CA359719180

Gene: NDUFS4

Linked Data

• MyVariant Identifiers: chr5:g.52954414C>A (hg19) ; chr5:g.53658584C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.53658584C>A , CM000667.2:g.53658584C>A	GRCh38
NC_000005.9:g.52954414C>A , CM000667.1:g.52954414C>A	GRCh37
NC_000005.8:g.52990171C>A	NCBI36
NG_008200.1:g.102950C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000296684.10:c.384C>A MANE Select	ENSP00000296684.5:p.Phe128Leu
ENST00000296684.9:c.384C>A	ENSP00000296684.5:p.Phe128Leu
ENST00000502423.5:c.*251C>A	ENSP00000422177.1:n.*251C>A
ENST00000506765.1:c.338+12179C>A	ENSP00000424570.1:n.338+12179C>A
ENST00000506974.5:c.*160C>A	ENSP00000425967.1:n.*160C>A
ENST00000507026.5:c.*358C>A	ENSP00000424993.1:n.*358C>A
ENST00000509443.1:n.245C>A
NM_002495.2:c.384C>A	NP_002486.1:p.Phe128Leu
XM_005248525.3:c.350+12179C>A	XP_005248582.1:n.350+12179C>A
XM_011543415.1:c.210C>A	XP_011541717.1:p.Phe70Leu
NM_001318051.1:c.350+12179C>A	NP_001304980.1:n.350+12179C>A
NM_002495.3:c.384C>A	NP_002486.1:p.Phe128Leu
NR_134473.1:n.586C>A
NR_134474.1:n.503C>A
NR_134475.1:n.538C>A
NM_002495.4:c.384C>A MANE Select	NP_002486.1:p.Phe128Leu
NM_001318051.2:c.350+12179C>A	NP_001304980.1:n.350+12179C>A
NR_134473.2:n.580C>A
NR_134474.2:n.497C>A
NR_134475.2:n.532C>A