CD46 CD46 molecule

Information
Symbol
CD46
Type
protein-coding
Description
CD46 molecule
Entrez Gene ID
4179
Genome
hg19
Position
chr1:207,925,402-207,968,858
Genome
hg38
Position
chr1:207,752,057-207,795,513
MIM
120920 OMIM
HGNC
HGNC:6953 HGNC
Ensembl
ENSG00000117335 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Pathogenic 16 44
Likely pathogenic 0 36
Benign 0 86
Likely benign 0 146
Conflicting classifications of pathogenicity 0 32
not provided 1 0
risk factor 0 4
Uncertain significance 0 352
Ranking
ClinVar
0
0
76
564
16
Frequency
EXAC_EAS
EXAC_EAS
HGVD
HGVD
TOMMO
TOMMO
Gene
Position
EXAC_EAS
EXAC_EAS
HGVD
HGVD
TOMMO
TOMMO
Gene
Position
Disease area statistics
Locus Zoom
Variants
Search Word
Target data :
MGeND data only
Category :
Search word :
Filtering :
Variant name Gene AA change CDS Japanese
frequency		 TogoVar MGeND Genome ClinVar CIViC evidence DisGeNET entry COSMIC
occurrence		 Prediction
Entry Origin Type Annotation Entry Origin Annotation
Search Word
Target data :
MGeND data only
Category :
Search word :
Filtering :
Name MGeND Type Genome Size Chromosome Start Stop Ref Alt ClinVar Origin Entry CIViC evidence DisGeNET entry
Entry Origin Type Annotation
Search Word
Target data :
MGeND data only
Category :
Search word :
Filtering :
Name MGeND Type Genome Gene symbol Chromosome Genomic start Genomic stop Strand Ref Alt ClinVar Origin Entry CIViC evidence DisGeNET entry
Entry Origin Type Annotation
TypeID
SYNONYM AHUS2
SYNONYM MCP
SYNONYM MIC10
SYNONYM TLX
SYNONYM TRA2.10
MIM 120920 OMIM
HGNC HGNC:6953 HGNC
Ensembl ENSG00000117335 Ensembl
AllianceGenome HGNC:6953
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000357714.5 hg38 chr1 207,752,057 207,795,513 43,457
ENST00000367047.5 hg38 chr1 207,752,057 207,795,513 43,457
ENST00000367042.6 hg38 chr1 207,752,054 207,795,504 43,451
ENST00000367041.5 hg38 chr1 207,752,057 207,795,513 43,457
ENST00000354848.5 hg38 chr1 207,752,057 207,795,513 43,457
ENST00000322918.9 hg38 chr1 207,752,057 207,795,513 43,457
ENST00000322875.8 hg38 chr1 207,752,057 207,795,513 43,457
ENST00000360212.6 hg38 chr1 207,752,115 207,795,506 43,392
ENST00000695777.1 hg38 chr1 207,752,037 207,795,466 43,430
ENST00000695782.1 hg38 chr1 207,752,050 207,795,435 43,386
ENST00000695780.1 hg38 chr1 207,752,050 207,795,258 43,209
ENST00000480003.5 hg38 chr1 207,752,123 207,793,646 41,524
ENST00000358170.6 hg38 chr1 207,752,057 207,795,513 43,457
ENST00000367042.6 hg19 chr1 207,925,399 207,968,849 43,451
ENST00000367047.5 hg19 chr1 207,925,402 207,968,858 43,457
ENST00000695777.1 hg19 chr1 207,925,382 207,968,811 43,430
ENST00000367041.5 hg19 chr1 207,925,402 207,968,858 43,457
ENST00000358170.6 hg19 chr1 207,925,402 207,968,858 43,457
ENST00000357714.5 hg19 chr1 207,925,402 207,968,858 43,457
ENST00000322875.8 hg19 chr1 207,925,402 207,968,858 43,457
ENST00000322918.9 hg19 chr1 207,925,402 207,968,858 43,457
ENST00000354848.5 hg19 chr1 207,925,402 207,968,858 43,457
ENST00000695780.1 hg19 chr1 207,925,395 207,968,603 43,209
ENST00000695782.1 hg19 chr1 207,925,395 207,968,780 43,386
ENST00000360212.6 hg19 chr1 207,925,460 207,968,851 43,392
ENST00000480003.5 hg19 chr1 207,925,468 207,966,991 41,524
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