Canonical Allele Identifier: CA444329841

Gene: NDUFS4

Linked Data

• MyVariant Identifiers: chr5:g.52954381G>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.53658551G>T , CM000667.2:g.53658551G>T	GRCh38
NC_000005.9:g.52954381G>T , CM000667.1:g.52954381G>T	GRCh37
NC_000005.8:g.52990138G>T	NCBI36
NG_008200.1:g.102917G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000296684.10:c.351G>T MANE Select	ENSP00000296684.5:p.Thr117=
ENST00000296684.9:c.351G>T	ENSP00000296684.5:p.Thr117=
ENST00000502423.5:c.*218G>T	ENSP00000422177.1:n.*218G>T
ENST00000506765.1:c.338+12146G>T	ENSP00000424570.1:n.338+12146G>T
ENST00000506974.5:c.*127G>T	ENSP00000425967.1:n.*127G>T
ENST00000507026.5:c.*325G>T	ENSP00000424993.1:n.*325G>T
ENST00000509443.1:n.212G>T
NM_002495.2:c.351G>T	NP_002486.1:p.Thr117=
XM_005248525.3:c.350+12146G>T	XP_005248582.1:n.350+12146G>T
XM_011543415.1:c.177G>T	XP_011541717.1:p.Thr59=
NM_001318051.1:c.350+12146G>T	NP_001304980.1:n.350+12146G>T
NM_002495.3:c.351G>T	NP_002486.1:p.Thr117=
NR_134473.1:n.553G>T
NR_134474.1:n.470G>T
NR_134475.1:n.505G>T
NM_002495.4:c.351G>T MANE Select	NP_002486.1:p.Thr117=
NM_001318051.2:c.350+12146G>T	NP_001304980.1:n.350+12146G>T
NR_134473.2:n.547G>T
NR_134474.2:n.464G>T
NR_134475.2:n.499G>T