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General information
Gene symbol CFTR
Gene name cystic fibrosis transmembrane conductance regulator
Chromosome 7
Chromosomal band q31.2
Imprinted Unknown
Genomic reference LRG_663
Transcript reference NM_000492.3
Associated with diseases CF, PCTT
Citation reference(s) -
Curators (4) Gabriele Senger, Sabine Heber, Florian Bayersdorfer and Elisabeth Ohmann
Total number of public variants reported 1
Unique public DNA variants reported 1
Individuals with public variants 0
Hidden variants 0
Date created June 28, 2016
Date last updated June 21, 2017
Version CFTR:170621

Graphical displays and utilities
Graphs Graphs displaying summary information of all variants in the database »
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.genet.sickkids.on.ca/app
HGNC 1884
Entrez Gene 1080
PubMed articles CFTR
OMIM - Gene 602421
OMIM - Diseases CF (CYSTIC FIBROSIS)
PCTT (PANCREATITIS, HEREDITARY)
HGMD CFTR
GeneCards CFTR
GeneTests CFTR


Active transcripts


ID     

Chr     

Name     

NCBI ID     

NCBI Protein ID     

DescendingVariants     
00000005 7 cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7) NM_000492.3 NP_000483.3 1


Copyright & disclaimer
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