This allele is not present in the registry. To get a canonical identifier, please click on the "Get identifier" below.
Canonical Allele Identifier: Get Identifier
Gene: CFTR HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Transcript change
ENSP00000417012.1:p.Pro18Leu
ENST00000446805.2:c.[53C>T;55C=]

ENST00000446805.2:c.[53C>T;55C>T;57C>A]

ENST00000446805.2:c.[53C>T;55C>T;57C>G]

ENST00000446805.2:c.[53C>T;56T=]

ENST00000446805.2:c.[53C>T;57C>A]

ENST00000446805.2:c.[53C>T;57C=]

ENST00000446805.2:c.[53C>T;57C>G]

ENST00000446805.2:c.[53C>T;57C>T]

ENST00000446805.2:c.[53C>T;58T>C]

ENST00000446805.2:c.[53C>T;59T=]

ENST00000446805.2:c.[53C>T;60A>G]

ENST00000446805.2:c.[53C>T;61C=]

ENST00000446805.2:c.[53C>T;61C>T]

ENST00000446805.2:c.[53C>T;62T=]

ENST00000446805.2:c.[53C>T;62_63delinsTG]...

ENST00000446805.2:c.[53C>T;63G>A]

ENST00000446805.2:c.[53C>T;63G>C]

ENST00000446805.2:c.[53C>T;63G=]

ENST00000446805.2:c.[53C>T;63G>T]

ENST00000446805.2:c.[53C>T;64G=]

ENST00000446805.2:c.[53C>T;65_66delinsGA]...

ENST00000446805.2:c.[53C>T;66A>C]

ENST00000446805.2:c.[53C>T;66A>G]

ENST00000446805.2:c.[53C>T;66A>T]

ENST00000446805.2:c.[53C>T;67A=]

ENST00000446805.2:c.[53C>T;67A>C]

ENST00000446805.2:c.[53C>T;68G=]

ENST00000446805.2:c.[53C>T;68_69delinsGA]...

ENST00000446805.2:c.[53C>T;69A>G]

ENST00000446805.2:c.[53C>T;70A=]

ENST00000446805.2:c.[53C>T;71T=]

ENST00000446805.2:c.[53C>T;72C>A]

ENST00000446805.2:c.[53C>T;72C>T]

ENST00000446805.2:c.[53C>T;73A=]

ENST00000446805.2:c.[53C>T;73_81delinsATA...

ENST00000446805.2:c.[53C>T;75A>C]

ENST00000446805.2:c.[53C>T;75A>T]

ENST00000446805.2:c.[53C>T;76G=]

ENST00000446805.2:c.[53C>T;78T>A]

ENST00000446805.2:c.[53C>T;78T>C]

ENST00000446805.2:c.[53C>T;78T>G]

ENST00000446805.2:c.[53C>T;78T=]

ENST00000446805.2:c.[53C>T;80C=]

ENST00000446805.2:c.[53C>T;81C>A]

ENST00000446805.2:c.[53C>T;81C>G]

ENST00000446805.2:c.[53C>T;81C>T]

ENST00000446805.2:c.[53C>T;81_84delinsCTA...

ENST00000446805.2:c.[53C>T;82T=]

ENST00000446805.2:c.[53C>T;83A=]

ENST00000446805.2:c.[53C>T;84T>C]

ENST00000446805.2:c.[53C>T;84T=]

ENST00000446805.2:c.[53C>T;84_85delinsTG]...

ENST00000446805.2:c.[53C>T;85G=]

ENST00000446805.2:c.[53C>T;87C=]

ENST00000446805.2:c.[53C>T;87C>T]

ENST00000446805.2:c.[53C>T;88C=]

ENST00000446805.2:c.[53C>T;89C=]

ENST00000446805.2:c.[53C>T;90G>A]

ENST00000446805.2:c.[53C>T;90G>C]

ENST00000446805.2:c.[53C>T;90G=]

ENST00000446805.2:c.[53C>T;90G>T]

ENST00000446805.2:c.[53C>T;91G=]

ENST00000446805.2:c.[53C>T;92A=]

ENST00000446805.2:c.[53C>T;93T>C]

ENST00000446805.2:c.[53C>T;93T=]

ENST00000446805.2:c.[53C>T;94A=]

ENST00000446805.2:c.[53C>T;95A=]

ENST00000446805.2:c.[53C>T;96C>T]

ENST00000446805.2:c.[53C>T;96_99delinsCAA...

ENST00000446805.2:c.[53C>T;97A=]

ENST00000446805.2:c.[53C>T;97_100delinsAA...

ENST00000446805.2:c.[53C>T;98A=]

ENST00000446805.2:c.[53C>T;99G>A]

ENST00000446805.2:c.[53C>T;99G=]

ENST00000446805.2:c.[53C>T;101A=]

ENST00000446805.2:c.[53C>T;102G>A]

ENST00000446805.2:c.[53C>T;103G=]

ENST00000446805.2:c.[53C>T;104A=]

ENST00000446805.2:c.[53C>T;105A>G]