Canonical Allele Identifier: CA559656487

Gene: NDUFS4

Linked Data

• ClinVar Variation Id: 2711416
• ClinVar RCV Id: RCV003552895
• dbSNP Id: rs1437912745
• gnomAD v2: 5-52954387-TC-T
• gnomAD v4: 5-53658557-TC-T
• MyVariant Identifiers: chr5:g.52954388del (hg19) ; chr5:g.53658558del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.53658560del , CM000667.2:g.53658560del	GRCh38
NC_000005.9:g.52954390del , CM000667.1:g.52954390del	GRCh37
NC_000005.8:g.52990147del	NCBI36
NG_008200.1:g.102926del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000296684.10:c.360del MANE Select	ENSP00000296684.5:p.Leu121TyrfsTer6
ENST00000296684.9:c.360del	ENSP00000296684.5:p.Leu121TyrfsTer6
ENST00000502423.5:c.*227del	ENSP00000422177.1:n.*227del
ENST00000506765.1:c.338+12155del	ENSP00000424570.1:n.338+12155del
ENST00000506974.5:c.*136del	ENSP00000425967.1:n.*136del
ENST00000507026.5:c.*334del	ENSP00000424993.1:n.*334del
ENST00000509443.1:n.221del
NM_002495.2:c.360del	NP_002486.1:p.Leu121TyrfsTer6
XM_005248525.3:c.350+12155del	XP_005248582.1:n.350+12155del
XM_011543415.1:c.186del	XP_011541717.1:p.Leu63TyrfsTer6
NM_001318051.1:c.350+12155del	NP_001304980.1:n.350+12155del
NM_002495.3:c.360del	NP_002486.1:p.Leu121TyrfsTer6
NR_134473.1:n.562del
NR_134474.1:n.479del
NR_134475.1:n.514del
NM_002495.4:c.360del MANE Select	NP_002486.1:p.Leu121TyrfsTer6
NM_001318051.2:c.350+12155del	NP_001304980.1:n.350+12155del
NR_134473.2:n.556del
NR_134474.2:n.473del
NR_134475.2:n.508del