Canonical Allele Identifier: CA3264264

Gene: NDUFS4

Linked Data

• ClinVar Variation Id: 2231090
• ClinVar RCV Id: RCV002717926 ; RCV003466002
• dbSNP Id: rs767393290
• ExAC: 5:52942203 ATGGG / A
• gnomAD v2: 5-52942203-ATGGG-A
• gnomAD v3: 5-53646373-ATGGG-A
• gnomAD v4: 5-53646373-ATGGG-A
• MyVariant Identifiers: chr5:g.52942204_52942207del (hg19) ; chr5:g.53646374_53646377del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.53646374_53646377del , CM000667.2:g.53646374_53646377del	GRCh38
NC_000005.9:g.52942204_52942207del , CM000667.1:g.52942204_52942207del	GRCh37
NC_000005.8:g.52977961_52977964del	NCBI36
NG_008200.1:g.90740_90743del

Transcript Alleles

HGVS	Amino-acid change
ENST00000296684.10:c.319_322del MANE Select	ENSP00000296684.5:p.Trp107LysfsTer4
ENST00000296684.9:c.319_322del	ENSP00000296684.5:p.Trp107LysfsTer4
ENST00000502423.5:c.*186_*189del	ENSP00000422177.1:n.*186_*189del
ENST00000506765.1:c.307_310del	ENSP00000424570.1:p.Trp103LysfsTer4
ENST00000506974.5:c.*95_*98del	ENSP00000425967.1:n.*95_*98del
ENST00000507026.5:c.*293_*296del	ENSP00000424993.1:n.*293_*296del
ENST00000509443.1:n.180_183del
NM_002495.2:c.319_322del	NP_002486.1:p.Trp107LysfsTer4
XM_005248525.3:c.319_322del	XP_005248582.1:p.Trp107LysfsTer4
XM_011543415.1:c.145_148del	XP_011541717.1:p.Trp49LysfsTer4
NM_001318051.1:c.319_322del	NP_001304980.1:p.Trp107LysfsTer4
NM_002495.3:c.319_322del	NP_002486.1:p.Trp107LysfsTer4
NR_134473.1:n.521_524del
NR_134474.1:n.438_441del
NR_134475.1:n.473_476del
NM_002495.4:c.319_322del MANE Select	NP_002486.1:p.Trp107LysfsTer4
NM_001318051.2:c.319_322del	NP_001304980.1:p.Trp107LysfsTer4
NR_134473.2:n.515_518del
NR_134474.2:n.432_435del
NR_134475.2:n.467_470del