CFI complement factor I

Information
Symbol
CFI
Type
protein-coding
Description
complement factor I
Entrez Gene ID
3426
Genome
hg19
Position
chr4:110,661,851-110,723,155
Genome
hg38
Position
chr4:109,740,695-109,801,999
MIM
217030 OMIM
HGNC
HGNC:5394 HGNC
Ensembl
ENSG00000205403 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Pathogenic 0 64
Likely pathogenic 0 44
Benign 0 110
Likely benign 0 286
Conflicting classifications of pathogenicity 0 42
risk factor 0 4
Uncertain significance 0 452
Ranking
ClinVar
0
0
206
692
22
Frequency
EXAC_EAS
EXAC_EAS
HGVD
HGVD
TOMMO
TOMMO
Gene
Position
EXAC_EAS
EXAC_EAS
HGVD
HGVD
TOMMO
TOMMO
Gene
Position
Disease area statistics
[No Data.]
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 AHUS3
SYNONYM ARMD13
SYNONYM C3BINA
SYNONYM C3b-INA
SYNONYM FI
SYNONYM IF
SYNONYM KAF
MIM 217030 OMIM
HGNC HGNC:5394 HGNC
Ensembl ENSG00000205403 Ensembl
AllianceGenome HGNC:5394
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000510800.1 hg38 chr4 109,764,359 109,801,978 37,620
ENST00000394634.7 hg38 chr4 109,740,695 109,801,999 61,305
ENST00000394635.8 hg38 chr4 109,740,695 109,801,999 61,305
ENST00000512148.5 hg38 chr4 109,740,724 109,801,985 61,262
ENST00000394634.7 hg19 chr4 110,661,851 110,723,155 61,305
ENST00000394635.8 hg19 chr4 110,661,851 110,723,155 61,305
ENST00000512148.5 hg19 chr4 110,661,880 110,723,141 61,262
ENST00000510800.1 hg19 chr4 110,685,515 110,723,134 37,620
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