The CFI gene homepage

General information
Gene symbol CFI
Gene name complement factor I
Chromosome 4
Chromosomal band q25
Imprinted Unknown
Genomic reference LRG_48
Transcript reference NM_000204.3
Exon/intron information NM_000204.3 exon/intron table
Associated with diseases AHUS-3, ARMD-13, CFID
Citation reference(s) -
Refseq URL Genomic reference sequence
Curators (2) James Smith and Judy Savige
Total number of public variants reported 63
Unique public DNA variants reported 44
Individuals with public variants 18
Hidden variants 3
Date created May 03, 2013
Date last updated February 08, 2021
Version CFI:210208

Graphical displays and utilities
Graphs Graphs displaying summary information of all variants in the database »
Reading frame checker The Reading-frame checker generates a prediction of the effect of whole-exon changes. Active for: NM_000204.3.
UCSC Genome Browser Show variants in the UCSC Genome Browser (full view, compact view)
Ensembl Genome Browser Show variants in the Ensembl Genome Browser (full view, compact view)
NCBI Sequence Viewer Show distribution histogram of variants in the NCBI Sequence Viewer

Links to other resources
Homepage URL
HGNC 5394
Entrez Gene 3426
PubMed articles CFI
OMIM - Gene 217030
OMIM - Diseases AHUS-3 (hemolytic-uremic syndrome, atypical, type 3 (AHUS-3))
ARMD-13 (macular degeneration, age-related, type 13 (ARMD-13))
CFID (deficiency, complement factor I (CFID))
GeneCards CFI
GeneTests CFI
Orphanet CFI

Active transcripts




NCBI ID     

NCBI Protein ID     

00005040 4 complement factor I NM_000204.3 NP_000195.2 63

Copyright & disclaimer
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We have used all reasonable efforts to ensure that the information displayed on these pages and contained in the databases is of high quality. We make no warranty, express or implied, as to its accuracy or that the information is fit for a particular purpose, and will not be held responsible for any consequences arising out of any inaccuracies or omissions. Individuals, organisations and companies which use this database do so on the understanding that no liability whatsoever either direct or indirect shall rest upon the curator(s) or any of their employees or agents for the effects of any product, process or method that may be produced or adopted by any part, notwithstanding that the formulation of such product, process or method may be based upon information here provided.