Canonical Allele Identifier: CA3264293

Gene: NDUFS4

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.53658555G>C , CM000667.2:g.53658555G>C	GRCh38
NC_000005.9:g.52954385G>C , CM000667.1:g.52954385G>C	GRCh37
NC_000005.8:g.52990142G>C	NCBI36
NG_008200.1:g.102921G>C

Transcript Alleles

HGVS	Amino-acid Change
NM_002495.4:c.355G>C MANE Select	NP_002486.1:p.Asp119His
ENST00000296684.10:c.355G>C MANE Select	ENSP00000296684.5:p.Asp119His
NM_001318051.1:c.350+12150G>C	NP_001304980.1:n.350+12150G>C
NM_001318051.2:c.350+12150G>C	NP_001304980.1:n.350+12150G>C
NM_002495.2:c.355G>C	NP_002486.1:p.Asp119His
NM_002495.3:c.355G>C	NP_002486.1:p.Asp119His
NR_134473.1:n.557G>C
NR_134473.2:n.551G>C
NR_134474.1:n.474G>C
NR_134474.2:n.468G>C
NR_134475.1:n.509G>C
NR_134475.2:n.503G>C
ENST00000296684.9:c.355G>C	ENSP00000296684.5:p.Asp119His
ENST00000502423.5:c.*222G>C	ENSP00000422177.1:n.*222G>C
ENST00000506765.1:c.338+12150G>C	ENSP00000424570.1:n.338+12150G>C
ENST00000506974.5:c.*131G>C	ENSP00000425967.1:n.*131G>C
ENST00000507026.5:c.*329G>C	ENSP00000424993.1:n.*329G>C
ENST00000509443.1:n.216G>C
XM_005248525.3:c.350+12150G>C	XP_005248582.1:n.350+12150G>C
XM_011543415.1:c.181G>C	XP_011541717.1:p.Asp61His