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
ENSP00000389119.1:p.Lys653Asn
ENST00000426809.5:c.[1955dup;1958A>C;1961...

ENST00000426809.5:c.[1955dup;1958A>T;1961...

ENST00000426809.5:c.[1959A>C;1960_1962del...

ENST00000426809.5:c.[1959A>C;1960_1963del...

ENST00000426809.5:c.[1959A>C;1961A=]

ENST00000426809.5:c.[1959A>C;1962A=]

ENST00000426809.5:c.[1959A>C;1962A>G]

ENST00000426809.5:c.[1959A>C;1963C=]

ENST00000426809.5:c.[1959A>C;1965A=]

ENST00000426809.5:c.[1959A>C;1965A>G]

ENST00000426809.5:c.[1959A>C;1966T=]

ENST00000426809.5:c.[1959A>C;1967C=]

ENST00000426809.5:c.[1959A>C;1967_1968del...

ENST00000426809.5:c.[1959A>C;1968T>A]

ENST00000426809.5:c.[1959A>C;1968T>C]

ENST00000426809.5:c.[1959A>C;1968T>G]

ENST00000426809.5:c.[1959A>C;1968T=]

ENST00000426809.5:c.[1959A>C;1969T=]

ENST00000426809.5:c.[1959A>C;1971T>C]

ENST00000426809.5:c.[1959A>C;1972A=]

ENST00000426809.5:c.[1959A>C;1974A>G]

ENST00000426809.5:c.[1959A>C;1975C=]

ENST00000426809.5:c.[1959A>C;1976A=]

ENST00000426809.5:c.[1959A>C;1977G>A]

ENST00000426809.5:c.[1959A>C;1978A=]

ENST00000426809.5:c.[1959A>C;1980T>A]

ENST00000426809.5:c.[1959A>C;1980T>C]

ENST00000426809.5:c.[1959A>C;1980T>G]

ENST00000426809.5:c.[1959A>C;1981G=]

ENST00000426809.5:c.[1959A>C;1982G=]

ENST00000426809.5:c.[1959A>C;1983A>C]

ENST00000426809.5:c.[1959A>C;1983A>G]

ENST00000426809.5:c.[1959A>C;1983A>T]

ENST00000426809.5:c.[1959A>C;1984G=]

ENST00000426809.5:c.[1959A>C;1985A=]

ENST00000426809.5:c.[1959A>C;1986G>A]

ENST00000426809.5:c.[1959A>C;1986_1988del...

ENST00000426809.5:c.[1959A>C;1987T=]

ENST00000426809.5:c.[1959A>C;1988T=]

ENST00000426809.5:c.[1959A>C;1989T>C]

ENST00000426809.5:c.[1959A>C;1989T=]

ENST00000426809.5:c.[1959A>C;1992G>A]

ENST00000426809.5:c.[1959A>C;1992G>C]

ENST00000426809.5:c.[1959A>C;1992G=]

ENST00000426809.5:c.[1959A>C;1992G>T]

ENST00000426809.5:c.[1959A>C;1993_1994del...

ENST00000426809.5:c.[1959A>C;1994A=]

ENST00000426809.5:c.[1959A>C;1995A>G]

ENST00000426809.5:c.[1959A>C;1997A=]

ENST00000426809.5:c.[1959A>C;1998A>G]

ENST00000426809.5:c.[1959A>C;1999A>C]

ENST00000426809.5:c.[1959A>C;2001G>A]

ENST00000426809.5:c.[1959A>C;2004G>A]

ENST00000426809.5:c.[1959A>C;2007T>C]

ENST00000426809.5:c.[1959A>C;2007T=]

ENST00000426809.5:c.[1959A>C;2010T>A]

ENST00000426809.5:c.[1959A>C;2010T>C]

ENST00000426809.5:c.[1959A>C;2010T>G]

ENST00000426809.5:c.[1959A>C;2013T>A]

ENST00000426809.5:c.[1959A>C;2013T>C]

ENST00000426809.5:c.[1959A>C;2014C>T;2016...

ENST00000426809.5:c.[1959A>C;2014C>T;2016...

ENST00000426809.5:c.[1959A>C;2016C>A]

ENST00000426809.5:c.[1959A>C;2016C=]

ENST00000426809.5:c.[1959A>C;2016C>G]

ENST00000426809.5:c.[1959A>C;2016C>T]

ENST00000426809.5:c.[1959A>C;2018A=]

ENST00000426809.5:c.[1959A>C;2019T>C]

ENST00000426809.5:c.[1959A>C;2019T=]

ENST00000426809.5:c.[1959A>C;2020C=]

ENST00000426809.5:c.[1959A>C;2021C=]

ENST00000426809.5:c.[1959A>C;2022A=]

ENST00000426809.5:c.[1959A>C;2022A>C]

ENST00000426809.5:c.[1959A>C;2022A>G]

ENST00000426809.5:c.[1959A>C;2022A>T]

ENST00000426809.5:c.[1959A>C;2023A=]

ENST00000426809.5:c.[1959A>C;2025C>A]

ENST00000426809.5:c.[1959A>C;2025C=]

ENST00000426809.5:c.[1959A>C;2025C>T]

ENST00000426809.5:c.[1959A>C;2027A=]

ENST00000426809.5:c.[1959A>C;2028C=]

ENST00000426809.5:c.[1959A>C;2028C>T]

ENST00000426809.5:c.[1959A>C;2030C=]

ENST00000426809.5:c.[1959A>C;2031T>A]

ENST00000426809.5:c.[1959A>C;2031T>C]

ENST00000426809.5:c.[1959A>C;2031T>G]

ENST00000426809.5:c.[1959A>C;2033T=]

ENST00000426809.5:c.[1959A>C;2034A>C]

ENST00000426809.5:c.[1959A>C;2034A>T]

ENST00000426809.5:c.[1959A>C;2035C>A]

ENST00000426809.5:c.[1959A>C;2035C=]

ENST00000426809.5:c.[1959A>C;2035_2036del...

ENST00000426809.5:c.[1959A>C;2036G=]

ENST00000426809.5:c.[1959A>C;2037A>C]

ENST00000426809.5:c.[1959A>C;2037A>G]

ENST00000426809.5:c.[1959A>C;2037A>T]

ENST00000426809.5:c.[1959A>C;2038A=]

ENST00000426809.5:c.[1959A>C;2040A=]

ENST00000426809.5:c.[1959A>C;2040A>G]

ENST00000426809.5:c.[1959A>T;1960_1962del...

ENST00000426809.5:c.[1959A>T;1960_1963del...

ENST00000426809.5:c.[1959A>T;1961A=]

ENST00000426809.5:c.[1959A>T;1962A=]

ENST00000426809.5:c.[1959A>T;1962A>G]

ENST00000426809.5:c.[1959A>T;1963C=]

ENST00000426809.5:c.[1959A>T;1965A=]

ENST00000426809.5:c.[1959A>T;1965A>G]

ENST00000426809.5:c.[1959A>T;1966T=]

ENST00000426809.5:c.[1959A>T;1967C=]

ENST00000426809.5:c.[1959A>T;1967_1968del...

ENST00000426809.5:c.[1959A>T;1968T>A]

ENST00000426809.5:c.[1959A>T;1968T>C]

ENST00000426809.5:c.[1959A>T;1968T>G]

ENST00000426809.5:c.[1959A>T;1968T=]

ENST00000426809.5:c.[1959A>T;1969T=]

ENST00000426809.5:c.[1959A>T;1971T>C]

ENST00000426809.5:c.[1959A>T;1972A=]

ENST00000426809.5:c.[1959A>T;1974A>G]

ENST00000426809.5:c.[1959A>T;1975C=]

ENST00000426809.5:c.[1959A>T;1976A=]

ENST00000426809.5:c.[1959A>T;1977G>A]

ENST00000426809.5:c.[1959A>T;1978A=]

ENST00000426809.5:c.[1959A>T;1980T>A]

ENST00000426809.5:c.[1959A>T;1980T>C]

ENST00000426809.5:c.[1959A>T;1980T>G]

ENST00000426809.5:c.[1959A>T;1981G=]

ENST00000426809.5:c.[1959A>T;1982G=]

ENST00000426809.5:c.[1959A>T;1983A>C]

ENST00000426809.5:c.[1959A>T;1983A>G]

ENST00000426809.5:c.[1959A>T;1983A>T]

ENST00000426809.5:c.[1959A>T;1984G=]

ENST00000426809.5:c.[1959A>T;1985A=]

ENST00000426809.5:c.[1959A>T;1986G>A]

ENST00000426809.5:c.[1959A>T;1986_1988del...

ENST00000426809.5:c.[1959A>T;1987T=]

ENST00000426809.5:c.[1959A>T;1988T=]

ENST00000426809.5:c.[1959A>T;1989T>C]

ENST00000426809.5:c.[1959A>T;1989T=]

ENST00000426809.5:c.[1959A>T;1992G>A]

ENST00000426809.5:c.[1959A>T;1992G>C]

ENST00000426809.5:c.[1959A>T;1992G=]

ENST00000426809.5:c.[1959A>T;1992G>T]

ENST00000426809.5:c.[1959A>T;1993_1994del...

ENST00000426809.5:c.[1959A>T;1994A=]

ENST00000426809.5:c.[1959A>T;1995A>G]

ENST00000426809.5:c.[1959A>T;1997A=]

ENST00000426809.5:c.[1959A>T;1998A>G]

ENST00000426809.5:c.[1959A>T;1999A>C]

ENST00000426809.5:c.[1959A>T;2001G>A]

ENST00000426809.5:c.[1959A>T;2004G>A]

ENST00000426809.5:c.[1959A>T;2007T>C]

ENST00000426809.5:c.[1959A>T;2007T=]

ENST00000426809.5:c.[1959A>T;2010T>A]

ENST00000426809.5:c.[1959A>T;2010T>C]

ENST00000426809.5:c.[1959A>T;2010T>G]

ENST00000426809.5:c.[1959A>T;2013T>A]

ENST00000426809.5:c.[1959A>T;2013T>C]

ENST00000426809.5:c.[1959A>T;2014C>T;2016...

ENST00000426809.5:c.[1959A>T;2014C>T;2016...

ENST00000426809.5:c.[1959A>T;2016C>A]

ENST00000426809.5:c.[1959A>T;2016C=]

ENST00000426809.5:c.[1959A>T;2016C>G]

ENST00000426809.5:c.[1959A>T;2016C>T]

ENST00000426809.5:c.[1959A>T;2018A=]

ENST00000426809.5:c.[1959A>T;2019T>C]

ENST00000426809.5:c.[1959A>T;2019T=]

ENST00000426809.5:c.[1959A>T;2020C=]

ENST00000426809.5:c.[1959A>T;2021C=]

ENST00000426809.5:c.[1959A>T;2022A=]

ENST00000426809.5:c.[1959A>T;2022A>C]

ENST00000426809.5:c.[1959A>T;2022A>G]

ENST00000426809.5:c.[1959A>T;2022A>T]

ENST00000426809.5:c.[1959A>T;2023A=]

ENST00000426809.5:c.[1959A>T;2025C>A]

ENST00000426809.5:c.[1959A>T;2025C=]

ENST00000426809.5:c.[1959A>T;2025C>T]

ENST00000426809.5:c.[1959A>T;2027A=]

ENST00000426809.5:c.[1959A>T;2028C=]

ENST00000426809.5:c.[1959A>T;2028C>T]

ENST00000426809.5:c.[1959A>T;2030C=]

ENST00000426809.5:c.[1959A>T;2031T>A]

ENST00000426809.5:c.[1959A>T;2031T>C]

ENST00000426809.5:c.[1959A>T;2031T>G]

ENST00000426809.5:c.[1959A>T;2033T=]

ENST00000426809.5:c.[1959A>T;2034A>C]

ENST00000426809.5:c.[1959A>T;2034A>T]

ENST00000426809.5:c.[1959A>T;2035C>A]

ENST00000426809.5:c.[1959A>T;2035C=]

ENST00000426809.5:c.[1959A>T;2035_2036del...

ENST00000426809.5:c.[1959A>T;2036G=]

ENST00000426809.5:c.[1959A>T;2037A>C]

ENST00000426809.5:c.[1959A>T;2037A>G]

ENST00000426809.5:c.[1959A>T;2037A>T]

ENST00000426809.5:c.[1959A>T;2038A=]

ENST00000426809.5:c.[1959A>T;2040A=]

ENST00000426809.5:c.[1959A>T;2040A>G]