Canonical Allele Identifier: CA2673829396

Gene: NDUFS4

Linked Data

• gnomAD v4: 5-53658608-C-CT

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.53658611dup , CM000667.2:g.53658611dup	GRCh38
NC_000005.9:g.52954441dup , CM000667.1:g.52954441dup	GRCh37
NC_000005.8:g.52990198dup	NCBI36
NG_008200.1:g.102977dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000296684.10:c.411dup MANE Select	ENSP00000296684.5:p.Ala138CysfsTer9
ENST00000296684.9:c.411dup	ENSP00000296684.5:p.Ala138CysfsTer9
ENST00000502423.5:c.*278dup	ENSP00000422177.1:n.*278dup
ENST00000506765.1:c.338+12206dup	ENSP00000424570.1:n.338+12206dup
ENST00000506974.5:c.*187dup	ENSP00000425967.1:n.*187dup
ENST00000507026.5:c.*385dup	ENSP00000424993.1:n.*385dup
ENST00000509443.1:n.272dup
NM_002495.2:c.411dup	NP_002486.1:p.Ala138CysfsTer9
XM_005248525.3:c.350+12206dup	XP_005248582.1:n.350+12206dup
XM_011543415.1:c.237dup	XP_011541717.1:p.Ala80CysfsTer9
NM_001318051.1:c.350+12206dup	NP_001304980.1:n.350+12206dup
NM_002495.3:c.411dup	NP_002486.1:p.Ala138CysfsTer9
NR_134473.1:n.613dup
NR_134474.1:n.530dup
NR_134475.1:n.565dup
NM_002495.4:c.411dup MANE Select	NP_002486.1:p.Ala138CysfsTer9
NM_001318051.2:c.350+12206dup	NP_001304980.1:n.350+12206dup
NR_134473.2:n.607dup
NR_134474.2:n.524dup
NR_134475.2:n.559dup