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.Trp1252Cys
ENST00000426809.5:c.[3756G>C;3757A>C]

ENST00000426809.5:c.[3756G>C;3758G=]

ENST00000426809.5:c.[3756G>C;3759G>A]

ENST00000426809.5:c.[3756G>C;3759G=]

ENST00000426809.5:c.[3756G>C;3760_3765del...

ENST00000426809.5:c.[3756G>C;3762A=]

ENST00000426809.5:c.[3756G>C;3762A>G]

ENST00000426809.5:c.[3756G>C;3763G=]

ENST00000426809.5:c.[3756G>C;3763_3764del...

ENST00000426809.5:c.[3756G>C;3764C=]

ENST00000426809.5:c.[3756G>C;3765C>A]

ENST00000426809.5:c.[3756G>C;3765C=]

ENST00000426809.5:c.[3756G>C;3765C>G]

ENST00000426809.5:c.[3756G>C;3765C>T]

ENST00000426809.5:c.[3756G>C;3767T=]

ENST00000426809.5:c.[3756G>C;3768T>C]

ENST00000426809.5:c.[3756G>C;3768T=]

ENST00000426809.5:c.[3756G>C;3769G=]

ENST00000426809.5:c.[3756G>C;3771A>C]

ENST00000426809.5:c.[3756G>C;3771A>G]

ENST00000426809.5:c.[3756G>C;3771A>T]

ENST00000426809.5:c.[3756G>C;3773T=]

ENST00000426809.5:c.[3756G>C;3774G>A]

ENST00000426809.5:c.[3756G>C;3774G>C]

ENST00000426809.5:c.[3756G>C;3774G>T]

ENST00000426809.5:c.[3756G>C;3775A=]

ENST00000426809.5:c.[3756G>C;3776T=]

ENST00000426809.5:c.[3756G>C;3777A>C]

ENST00000426809.5:c.[3756G>C;3777A>T]

ENST00000426809.5:c.[3756G>C;3778C=]

ENST00000426809.5:c.[3756G>C;3779C=]

ENST00000426809.5:c.[3756G>C;3780A=]

ENST00000426809.5:c.[3756G>C;3780A>C]

ENST00000426809.5:c.[3756G>C;3780A>G]

ENST00000426809.5:c.[3756G>C;3780A>T]

ENST00000426809.5:c.[3756G>C;3781C=]

ENST00000426809.5:c.[3756G>C;3782A=]

ENST00000426809.5:c.[3756G>C;3783G>A]

ENST00000426809.5:c.[3756G>C;3783G=]

ENST00000426809.5:c.[3756G>C;3786A>G]

ENST00000426809.5:c.[3756G>C;3787G=]

ENST00000426809.5:c.[3756G>C;3787_3791del...

ENST00000426809.5:c.[3756G>C;3789A>C]

ENST00000426809.5:c.[3756G>C;3789A>G]

ENST00000426809.5:c.[3756G>C;3789A>T]

ENST00000426809.5:c.[3756G>C;3792T>C]

ENST00000426809.5:c.[3756G>C;3792_3793del...

ENST00000426809.5:c.[3756G>C;3793A=]

ENST00000426809.5:c.[3756G>C;3794T=]

ENST00000426809.5:c.[3756G>C;3795T>A]

ENST00000426809.5:c.[3756G>C;3795T>C]

ENST00000426809.5:c.[3756G>C;3798T>C]

ENST00000426809.5:c.[3756G>C;3800C=]

ENST00000426809.5:c.[3756G>C;3801T>A]

ENST00000426809.5:c.[3756G>C;3801T>C]

ENST00000426809.5:c.[3756G>C;3801T>G]

ENST00000426809.5:c.[3756G>C;3802G=]

ENST00000426809.5:c.[3756G>C;3803G=]

ENST00000426809.5:c.[3756G>C;3804A=]

ENST00000426809.5:c.[3756G>C;3804A>C]

ENST00000426809.5:c.[3756G>C;3804A>G]

ENST00000426809.5:c.[3756G>C;3804A>T]

ENST00000426809.5:c.[3756G>C;3805A=]

ENST00000426809.5:c.[3756G>C;3806C=]

ENST00000426809.5:c.[3756G>C;3807A=]

ENST00000426809.5:c.[3756G>C;3807A>C]

ENST00000426809.5:c.[3756G>C;3807A>G]

ENST00000426809.5:c.[3756G>C;3807A>T]

ENST00000426809.5:c.[3756G>C;3808T=]

ENST00000426809.5:c.[3756G>C;3810T>C]

ENST00000426809.5:c.[3756G>C;3811A>C]

ENST00000426809.5:c.[3756G>C;3812_3813del...

ENST00000426809.5:c.[3756G>C;3813A=]

ENST00000426809.5:c.[3756G>C;3813A>G]

ENST00000426809.5:c.[3756G>C;3816A>G]

ENST00000426809.5:c.[3756G>C;3817A=]

ENST00000426809.5:c.[3756G>C;3818A=]

ENST00000426809.5:c.[3756G>C;3818_3824del...

ENST00000426809.5:c.[3756G>C;3819C=]

ENST00000426809.5:c.[3756G>C;3819C>T]

ENST00000426809.5:c.[3756G>C;3820T>C]

ENST00000426809.5:c.[3756G>C;3820T=]

ENST00000426809.5:c.[3756G>C;3822G>A]

ENST00000426809.5:c.[3756G>C;3825T>C]

ENST00000426809.5:c.[3756G>C;3825T=]

ENST00000426809.5:c.[3756G>C;3826C=]

ENST00000426809.5:c.[3756G>C;3828C>A]

ENST00000426809.5:c.[3756G>C;3828C=]

ENST00000426809.5:c.[3756G>C;3828C>G]

ENST00000426809.5:c.[3756G>C;3828C>T]

ENST00000426809.5:c.[3756G>C;3829T=]

ENST00000426809.5:c.[3756G>C;3830A=]

ENST00000426809.5:c.[3756G>C;3831T>C]

ENST00000426809.5:c.[3756G>C;3831T=]

ENST00000426809.5:c.[3756G>C;3832G=]

ENST00000426809.5:c.[3756G>C;3834A>G]

ENST00000426809.5:c.[3756G>C;3835C=]

ENST00000426809.5:c.[3756G>C;3837G>A]

ENST00000426809.5:c.[3756G>C;3837G=]

ENST00000426809.5:c.[3756G>T;3757A>C]

ENST00000426809.5:c.[3756G>T;3758G=]

ENST00000426809.5:c.[3756G>T;3759G>A]

ENST00000426809.5:c.[3756G>T;3759G=]

ENST00000426809.5:c.[3756G>T;3760_3765del...

ENST00000426809.5:c.[3756G>T;3762A=]

ENST00000426809.5:c.[3756G>T;3762A>G]

ENST00000426809.5:c.[3756G>T;3763G=]

ENST00000426809.5:c.[3756G>T;3763_3764del...

ENST00000426809.5:c.[3756G>T;3764C=]

ENST00000426809.5:c.[3756G>T;3765C>A]

ENST00000426809.5:c.[3756G>T;3765C=]

ENST00000426809.5:c.[3756G>T;3765C>G]

ENST00000426809.5:c.[3756G>T;3765C>T]

ENST00000426809.5:c.[3756G>T;3767T=]

ENST00000426809.5:c.[3756G>T;3768T>C]

ENST00000426809.5:c.[3756G>T;3768T=]

ENST00000426809.5:c.[3756G>T;3769G=]

ENST00000426809.5:c.[3756G>T;3771A>C]

ENST00000426809.5:c.[3756G>T;3771A>G]

ENST00000426809.5:c.[3756G>T;3771A>T]

ENST00000426809.5:c.[3756G>T;3773T=]

ENST00000426809.5:c.[3756G>T;3774G>A]

ENST00000426809.5:c.[3756G>T;3774G>C]

ENST00000426809.5:c.[3756G>T;3774G>T]

ENST00000426809.5:c.[3756G>T;3775A=]

ENST00000426809.5:c.[3756G>T;3776T=]

ENST00000426809.5:c.[3756G>T;3777A>C]

ENST00000426809.5:c.[3756G>T;3777A>T]

ENST00000426809.5:c.[3756G>T;3778C=]

ENST00000426809.5:c.[3756G>T;3779C=]

ENST00000426809.5:c.[3756G>T;3780A=]

ENST00000426809.5:c.[3756G>T;3780A>C]

ENST00000426809.5:c.[3756G>T;3780A>G]

ENST00000426809.5:c.[3756G>T;3780A>T]

ENST00000426809.5:c.[3756G>T;3781C=]

ENST00000426809.5:c.[3756G>T;3782A=]

ENST00000426809.5:c.[3756G>T;3783G>A]

ENST00000426809.5:c.[3756G>T;3783G=]

ENST00000426809.5:c.[3756G>T;3786A>G]

ENST00000426809.5:c.[3756G>T;3787G=]

ENST00000426809.5:c.[3756G>T;3787_3791del...

ENST00000426809.5:c.[3756G>T;3789A>C]

ENST00000426809.5:c.[3756G>T;3789A>G]

ENST00000426809.5:c.[3756G>T;3789A>T]

ENST00000426809.5:c.[3756G>T;3792T>C]

ENST00000426809.5:c.[3756G>T;3792_3793del...

ENST00000426809.5:c.[3756G>T;3793A=]

ENST00000426809.5:c.[3756G>T;3794T=]

ENST00000426809.5:c.[3756G>T;3795T>A]

ENST00000426809.5:c.[3756G>T;3795T>C]

ENST00000426809.5:c.[3756G>T;3798T>C]

ENST00000426809.5:c.[3756G>T;3800C=]

ENST00000426809.5:c.[3756G>T;3801T>A]

ENST00000426809.5:c.[3756G>T;3801T>C]

ENST00000426809.5:c.[3756G>T;3801T>G]

ENST00000426809.5:c.[3756G>T;3802G=]

ENST00000426809.5:c.[3756G>T;3803G=]

ENST00000426809.5:c.[3756G>T;3804A=]

ENST00000426809.5:c.[3756G>T;3804A>C]

ENST00000426809.5:c.[3756G>T;3804A>G]

ENST00000426809.5:c.[3756G>T;3804A>T]

ENST00000426809.5:c.[3756G>T;3805A=]

ENST00000426809.5:c.[3756G>T;3806C=]

ENST00000426809.5:c.[3756G>T;3807A=]

ENST00000426809.5:c.[3756G>T;3807A>C]

ENST00000426809.5:c.[3756G>T;3807A>G]

ENST00000426809.5:c.[3756G>T;3807A>T]

ENST00000426809.5:c.[3756G>T;3808T=]

ENST00000426809.5:c.[3756G>T;3810T>C]

ENST00000426809.5:c.[3756G>T;3811A>C]

ENST00000426809.5:c.[3756G>T;3812_3813del...

ENST00000426809.5:c.[3756G>T;3813A=]

ENST00000426809.5:c.[3756G>T;3813A>G]

ENST00000426809.5:c.[3756G>T;3816A>G]

ENST00000426809.5:c.[3756G>T;3817A=]

ENST00000426809.5:c.[3756G>T;3818A=]

ENST00000426809.5:c.[3756G>T;3818_3824del...

ENST00000426809.5:c.[3756G>T;3819C=]

ENST00000426809.5:c.[3756G>T;3819C>T]

ENST00000426809.5:c.[3756G>T;3820T>C]

ENST00000426809.5:c.[3756G>T;3820T=]

ENST00000426809.5:c.[3756G>T;3822G>A]

ENST00000426809.5:c.[3756G>T;3825T>C]

ENST00000426809.5:c.[3756G>T;3825T=]

ENST00000426809.5:c.[3756G>T;3826C=]

ENST00000426809.5:c.[3756G>T;3828C>A]

ENST00000426809.5:c.[3756G>T;3828C=]

ENST00000426809.5:c.[3756G>T;3828C>G]

ENST00000426809.5:c.[3756G>T;3828C>T]

ENST00000426809.5:c.[3756G>T;3829T=]

ENST00000426809.5:c.[3756G>T;3830A=]

ENST00000426809.5:c.[3756G>T;3831T>C]

ENST00000426809.5:c.[3756G>T;3831T=]

ENST00000426809.5:c.[3756G>T;3832G=]

ENST00000426809.5:c.[3756G>T;3834A>G]

ENST00000426809.5:c.[3756G>T;3835C=]

ENST00000426809.5:c.[3756G>T;3837G>A]

ENST00000426809.5:c.[3756G>T;3837G=]