Canonical Allele Identifier: CA1076121901

Gene: NDUFS4

Linked Data

• dbSNP Id: rs1752239135
• gnomAD v3: 5-53658803-A-AC
• gnomAD v4: 5-53658803-A-AC

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.53658803_53658804insC , CM000667.2:g.53658803_53658804insC	GRCh38
NC_000005.9:g.52954633_52954634insC , CM000667.1:g.52954633_52954634insC	GRCh37
NC_000005.8:g.52990390_52990391insC	NCBI36
NG_008200.1:g.103169_103170insC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000296684.10:c.424+179_424+180insC MANE Select	ENSP00000296684.5:n.424+179_424+180insC
ENST00000296684.9:c.424+179_424+180insC	ENSP00000296684.5:n.424+179_424+180insC
ENST00000502423.5:c.*291+179_*291+180insC	ENSP00000422177.1:n.*291+179_*291+180insC
ENST00000506765.1:c.338+12398_338+12399insC	ENSP00000424570.1:n.338+12398_338+12399insC
ENST00000506974.5:c.*200+179_*200+180insC	ENSP00000425967.1:n.*200+179_*200+180insC
ENST00000507026.5:c.*398+179_*398+180insC	ENSP00000424993.1:n.*398+179_*398+180insC
NM_002495.2:c.424+179_424+180insC	NP_002486.1:n.424+179_424+180insC
XM_005248525.3:c.350+12398_350+12399insC	XP_005248582.1:n.350+12398_350+12399insC
XM_011543415.1:c.250+179_250+180insC	XP_011541717.1:n.250+179_250+180insC
NM_001318051.1:c.350+12398_350+12399insC	NP_001304980.1:n.350+12398_350+12399insC
NM_002495.3:c.424+179_424+180insC	NP_002486.1:n.424+179_424+180insC
NR_134473.1:n.626+179_626+180insC
NR_134474.1:n.543+179_543+180insC
NR_134475.1:n.578+179_578+180insC
NM_002495.4:c.424+179_424+180insC MANE Select	NP_002486.1:n.424+179_424+180insC
NM_001318051.2:c.350+12398_350+12399insC	NP_001304980.1:n.350+12398_350+12399insC
NR_134473.2:n.620+179_620+180insC
NR_134474.2:n.537+179_537+180insC
NR_134475.2:n.572+179_572+180insC