Canonical Allele Identifier: CA119132267

Gene: NDUFS4

Linked Data - Variant Effect Evidence

Linked Data - Sequence & Population

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.53617061A>C , CM000667.2:g.53617061A>C	GRCh38
NC_000005.9:g.52912891A>C , CM000667.1:g.52912891A>C	GRCh37
NC_000005.8:g.52948648A>C	NCBI36
NG_008200.1:g.61427A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000296684.10:c.177+13531A>C MANE Select	ENSP00000296684.5:n.177+13531A>C
ENST00000296684.9:c.177+13531A>C	ENSP00000296684.5:n.177+13531A>C
ENST00000502423.5:c.*44+12166A>C	ENSP00000422177.1:n.*44+12166A>C
ENST00000506765.1:c.165+13531A>C	ENSP00000424570.1:n.165+13531A>C
ENST00000506974.5:c.349+12166A>C	ENSP00000425967.1:n.349+12166A>C
ENST00000507026.5:c.*151+13531A>C	ENSP00000424993.1:n.*151+13531A>C
NM_002495.2:c.177+13531A>C	NP_002486.1:n.177+13531A>C
XM_005248525.3:c.177+13531A>C	XP_005248582.1:n.177+13531A>C
XM_011543414.1:c.349+12166A>C	XP_011541716.1:n.349+12166A>C
XM_011543415.1:c.3+12166A>C	XP_011541717.1:n.3+12166A>C
NM_001318051.1:c.177+13531A>C	NP_001304980.1:n.177+13531A>C
NM_002495.3:c.177+13531A>C	NP_002486.1:n.177+13531A>C
NR_134473.1:n.379+12166A>C
NR_134474.1:n.296+12166A>C
NR_134475.1:n.331+13531A>C
XM_017009491.1:c.349+12166A>C	XP_016864980.1:n.349+12166A>C
NM_002495.4:c.177+13531A>C MANE Select	NP_002486.1:n.177+13531A>C
NM_001318051.2:c.177+13531A>C	NP_001304980.1:n.177+13531A>C
NR_134473.2:n.373+12166A>C
NR_134474.2:n.290+12166A>C
NR_134475.2:n.325+13531A>C