• phenotypes
• clinical data and updates
• sequence variations
• variants classification
• functional studies

      Please select any CFTR variant with the DNA, protein, genomic nomenclature or legacy name, using:

• exact HGVS c. or p. (variations), e.g. 'c.1523T>G' or 'p.(Phe508Cys)'.
• exact HGVS genomic nomenclature (hg19), e.g. 'g.117199648T>G'.
• legacy name, e.g. '394delTT'.
• partial match on HGVS c., p. or g. names, e.g. '117199' would return all variants with '117199' in c., p. or g. name.

• phenotypes
• allele frequency
• NGS criteria

      Please select any CFTR variant with the DNA, protein, genomic nomenclature or legacy name, using:

• exact HGVS c. or p. (variations), e.g. 'c.1523T>G' or 'p.(Phe508Cys)'.
• exact HGVS genomic nomenclature (hg19), e.g. 'g.117199648T>G'.
• legacy name, e.g. '394delTT'.
• partial match on HGVS c., p. or g. names, e.g. '117199' would return all variants with '117199' in c., p. or g. name.

• amino acid conservation
• 3D models
• predictions of structural impacts

      Please select any CFTR missense variant with the protein nomenclature, in 1- or 3-letter amino acid code, e.g.       'N1303K' or 'Asn1303Lys' to test a characterized disease-causing variant or 'V470M' to see a CFTR polymorphism.

• in silico predictions
• public databases
• literature

      Please select any CFTR variant with the DNA, protein nomenclature or legacy name, using :

• exact HGVS c. or p. (allowing variations), e.g. 'c.1523T>G' or 'p.(Phe508Cys)'.
• partial match on HGVS c. or p. names, e.g. '1523' would return all variants with 1523 in c. or p. name.