Canonical Allele Identifier: CA444330315

Gene: NDUFS4

Linked Data

• ClinVar Variation Id: 2700601
• ClinVar RCV Id: RCV003547301
• MyVariant Identifiers: chr5:g.52942074T>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.53646244T>G , CM000667.2:g.53646244T>G	GRCh38
NC_000005.9:g.52942074T>G , CM000667.1:g.52942074T>G	GRCh37
NC_000005.8:g.52977831T>G	NCBI36
NG_008200.1:g.90610T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000296684.10:c.189T>G MANE Select	ENSP00000296684.5:p.Thr63=
ENST00000296684.9:c.189T>G	ENSP00000296684.5:p.Thr63=
ENST00000502423.5:c.*56T>G	ENSP00000422177.1:n.*56T>G
ENST00000506765.1:c.177T>G	ENSP00000424570.1:p.Thr59=
ENST00000506974.5:c.361T>G	ENSP00000425967.1:p.Phe121Val
ENST00000507026.5:c.*163T>G	ENSP00000424993.1:n.*163T>G
ENST00000509443.1:n.50T>G
NM_002495.2:c.189T>G	NP_002486.1:p.Thr63=
XM_005248525.3:c.189T>G	XP_005248582.1:p.Thr63=
XM_011543415.1:c.15T>G	XP_011541717.1:p.Thr5=
NM_001318051.1:c.189T>G	NP_001304980.1:p.Thr63=
NM_002495.3:c.189T>G	NP_002486.1:p.Thr63=
NR_134473.1:n.391T>G
NR_134474.1:n.308T>G
NR_134475.1:n.343T>G
NM_002495.4:c.189T>G MANE Select	NP_002486.1:p.Thr63=
NM_001318051.2:c.189T>G	NP_001304980.1:p.Thr63=
NR_134473.2:n.385T>G
NR_134474.2:n.302T>G
NR_134475.2:n.337T>G