Canonical Allele Identifier: CA2578308511

Gene: NDUFS4

Linked Data

• ClinVar Variation Id: 2862084
• ClinVar RCV Id: RCV003704639

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.53646218dup , CM000667.2:g.53646218dup	GRCh38
NC_000005.9:g.52942048dup , CM000667.1:g.52942048dup	GRCh37
NC_000005.8:g.52977805dup	NCBI36
NG_008200.1:g.90584dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000296684.10:c.178-15dup MANE Select	ENSP00000296684.5:n.178-15dup
ENST00000296684.9:c.178-15dup	ENSP00000296684.5:n.178-15dup
ENST00000502423.5:c.*45-15dup	ENSP00000422177.1:n.*45-15dup
ENST00000506765.1:c.166-15dup	ENSP00000424570.1:n.166-15dup
ENST00000506974.5:c.350-15dup	ENSP00000425967.1:n.350-15dup
ENST00000507026.5:c.*152-15dup	ENSP00000424993.1:n.*152-15dup
ENST00000509443.1:n.24dup
NM_002495.2:c.178-15dup	NP_002486.1:n.178-15dup
XM_005248525.3:c.178-15dup	XP_005248582.1:n.178-15dup
XM_011543415.1:c.4-15dup	XP_011541717.1:n.4-15dup
NM_001318051.1:c.178-15dup	NP_001304980.1:n.178-15dup
NM_002495.3:c.178-15dup	NP_002486.1:n.178-15dup
NR_134473.1:n.380-15dup
NR_134474.1:n.297-15dup
NR_134475.1:n.332-15dup
NM_002495.4:c.178-15dup MANE Select	NP_002486.1:n.178-15dup
NM_001318051.2:c.178-15dup	NP_001304980.1:n.178-15dup
NR_134473.2:n.374-15dup
NR_134474.2:n.291-15dup
NR_134475.2:n.326-15dup