The CFTR gene homepage

General information
Gene symbol CFTR
Gene name cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7)
Chromosome 7
Chromosomal band q31-q32
Imprinted Not imprinted
Genomic reference LRG_663
Transcript reference NM_000492.3
Exon/intron information NM_000492.3 exon/intron table
Associated with diseases BESC-1, CBAVD, CF, PCTT
Citation reference(s) -
Refseq URL Genomic reference sequence
Curators (1) Global Variome, with Curator vacancy
Total number of public variants reported 1624
Unique public DNA variants reported 624
Individuals with public variants 862
Hidden variants 26
Download all this gene's data Download all data
Notes Establishment of this gene variant database (LSDB) was performed by Johan den Dunnen, supported by Global Variome.
Date created April 05, 2011
Date last updated March 22, 2021
Version CFTR:210322

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_000492.3.
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 http://www.LOVD.nl/CFTR
External URL Cystic Fibrosis Mutation Database (CFTR1)
CFTR2 - Clinical and Functional Translation of CFTR website
HGNC 1884
Entrez Gene 1080
PubMed articles CFTR
OMIM - Gene 602421
OMIM - Diseases BESC-1 (bronchiectasis, with/without elevated sweat chloride, type 1, modifier of (BESC-1))
CBAVD (vas deferens, congenital bilateral absence (CBAVD))
CF (cystic fibrosis (CF))
PCTT (pancreatitis (PCTT))
HGMD CFTR
GeneCards CFTR
GeneTests CFTR
Orphanet CFTR


Active transcripts


ID     

Chr     

Name     

NCBI ID     

NCBI Protein ID     

DescendingVariants     
00000116 7 cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7) NM_000492.3 NP_000483.3 1624


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