Canonical Allele Identifier: CA658796526

Gene: NDUFS4

Linked Data

• ClinVar Variation Id: 524137
• ClinVar RCV Id: RCV000627633
• dbSNP Id: rs1554060168
• MyVariant Identifiers: chr5:g.52954407_52954414del (hg19) ; chr5:g.53658577_53658584del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.53658577_53658584del , CM000667.2:g.53658577_53658584del	GRCh38
NC_000005.9:g.52954407_52954414del , CM000667.1:g.52954407_52954414del	GRCh37
NC_000005.8:g.52990164_52990171del	NCBI36
NG_008200.1:g.102943_102950del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000296684.10:c.377_384del MANE Select	ENSP00000296684.5:p.Leu126GlnfsTer3
ENST00000296684.9:c.377_384del	ENSP00000296684.5:p.Leu126GlnfsTer3
ENST00000502423.5:c.*244_*251del	ENSP00000422177.1:n.*244_*251del
ENST00000506765.1:c.338+12172_338+12179del	ENSP00000424570.1:n.338+12172_338+12179del
ENST00000506974.5:c.*153_*160del	ENSP00000425967.1:n.*153_*160del
ENST00000507026.5:c.*351_*358del	ENSP00000424993.1:n.*351_*358del
ENST00000509443.1:n.238_245del
NM_002495.2:c.377_384del	NP_002486.1:p.Leu126GlnfsTer3
XM_005248525.3:c.350+12172_350+12179del	XP_005248582.1:n.350+12172_350+12179del
XM_011543415.1:c.203_210del	XP_011541717.1:p.Leu68GlnfsTer3
NM_001318051.1:c.350+12172_350+12179del	NP_001304980.1:n.350+12172_350+12179del
NM_002495.3:c.377_384del	NP_002486.1:p.Leu126GlnfsTer3
NR_134473.1:n.579_586del
NR_134474.1:n.496_503del
NR_134475.1:n.531_538del
NM_002495.4:c.377_384del MANE Select	NP_002486.1:p.Leu126GlnfsTer3
NM_001318051.2:c.350+12172_350+12179del	NP_001304980.1:n.350+12172_350+12179del
NR_134473.2:n.573_580del
NR_134474.2:n.490_497del
NR_134475.2:n.525_532del