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Canonical Allele Identifier: Get Identifier
Gene: CFTR HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Transcript change
ENSP00000389119.1:p.Phe1227Val
ENST00000426809.5:c.[3679T>G;3682T>C]

ENST00000426809.5:c.[3679T>G;3682T=]

ENST00000426809.5:c.[3679T>G;3683T=]

ENST00000426809.5:c.[3679T>G;3684G>A]

ENST00000426809.5:c.[3679T>G;3685A>C]

ENST00000426809.5:c.[3679T>G;3686G=]

ENST00000426809.5:c.[3679T>G;3686_3689del...

ENST00000426809.5:c.[3679T>G;3687A>G]

ENST00000426809.5:c.[3679T>G;3688C=]

ENST00000426809.5:c.[3679T>G;3688C>T]

ENST00000426809.5:c.[3679T>G;3690A=]

ENST00000426809.5:c.[3679T>G;3690A>C]

ENST00000426809.5:c.[3679T>G;3690A>G]

ENST00000426809.5:c.[3679T>G;3690A>T]

ENST00000426809.5:c.[3679T>G;3691C>T]

ENST00000426809.5:c.[3679T>G;3693G>A]

ENST00000426809.5:c.[3679T>G;3693G>C]

ENST00000426809.5:c.[3679T>G;3693G=]

ENST00000426809.5:c.[3679T>G;3693G>T]

ENST00000426809.5:c.[3679T>G;3696C>T]

ENST00000426809.5:c.[3679T>G;3697A=]

ENST00000426809.5:c.[3679T>G;3697_3698del...

ENST00000426809.5:c.[3679T>G;3698C=]

ENST00000426809.5:c.[3679T>G;3699T>A]

ENST00000426809.5:c.[3679T>G;3699T>C]

ENST00000426809.5:c.[3679T>G;3699T>G]

ENST00000426809.5:c.[3679T>G;3699T=]

ENST00000426809.5:c.[3679T>G;3701A=]

ENST00000426809.5:c.[3679T>G;3702A=]

ENST00000426809.5:c.[3679T>G;3702A>G]

ENST00000426809.5:c.[3679T>G;3704G=]

ENST00000426809.5:c.[3679T>G;3705A>C]

ENST00000426809.5:c.[3679T>G;3705A>G]

ENST00000426809.5:c.[3679T>G;3705A>T]

ENST00000426809.5:c.[3679T>G;3706G=]

ENST00000426809.5:c.[3679T>G;3707A=]

ENST00000426809.5:c.[3679T>G;3708A>G]

ENST00000426809.5:c.[3679T>G;3711C>A]

ENST00000426809.5:c.[3679T>G;3711C>T]

ENST00000426809.5:c.[3679T>G;3713A=]

ENST00000426809.5:c.[3679T>G;3714G>A]

ENST00000426809.5:c.[3679T>G;3716T=]

ENST00000426809.5:c.[3679T>G;3717C>A]

ENST00000426809.5:c.[3679T>G;3717C=]

ENST00000426809.5:c.[3679T>G;3717C>T]

ENST00000426809.5:c.[3679T>G;3717_3718del...

ENST00000426809.5:c.[3679T>G;3718G=]

ENST00000426809.5:c.[3679T>G;3719A=]

ENST00000426809.5:c.[3679T>G;3720T>C]

ENST00000426809.5:c.[3679T>G;3721G=]

ENST00000426809.5:c.[3679T>G;3721_3723del...

ENST00000426809.5:c.[3679T>G;3723T>A]

ENST00000426809.5:c.[3679T>G;3723T>C]

ENST00000426809.5:c.[3679T>G;3723T>G]

ENST00000426809.5:c.[3679T>G;3724G=]

ENST00000426809.5:c.[3679T>G;3725T=]

ENST00000426809.5:c.[3679T>G;3726G>A]

ENST00000426809.5:c.[3679T>G;3726G>C]

ENST00000426809.5:c.[3679T>G;3726G=]

ENST00000426809.5:c.[3679T>G;3726G>T]

ENST00000426809.5:c.[3679T>G;3729T>A]

ENST00000426809.5:c.[3679T>G;3729T>C]

ENST00000426809.5:c.[3679T>G;3729T>G]

ENST00000426809.5:c.[3679T>G;3729T=]

ENST00000426809.5:c.[3679T>G;3732G=]

ENST00000426809.5:c.[3679T>G;3735T>C]

ENST00000426809.5:c.[3679T>G;3737_3738del...

ENST00000426809.5:c.[3679T>G;3738A>C]

ENST00000426809.5:c.[3679T>G;3738A>G]

ENST00000426809.5:c.[3679T>G;3738A>T]

ENST00000426809.5:c.[3679T>G;3739A=]

ENST00000426809.5:c.[3679T>G;3740T=]

ENST00000426809.5:c.[3679T>G;3741A>C]

ENST00000426809.5:c.[3679T>G;3741A>T]

ENST00000426809.5:c.[3679T>G;3742A=]

ENST00000426809.5:c.[3679T>G;3743_3745del...

ENST00000426809.5:c.[3679T>G;3744T>A]

ENST00000426809.5:c.[3679T>G;3744T>C]

ENST00000426809.5:c.[3679T>G;3744T>G]

ENST00000426809.5:c.[3679T>G;3744T=]

ENST00000426809.5:c.[3679T>G;3745T>C]

ENST00000426809.5:c.[3679T>G;3746T=]

ENST00000426809.5:c.[3679T>G;3747G>A]

ENST00000426809.5:c.[3679T>G;3748C=]

ENST00000426809.5:c.[3679T>G;3750A>G]

ENST00000426809.5:c.[3679T>G;3751C=]

ENST00000426809.5:c.[3679T>G;3752A=]

ENST00000426809.5:c.[3679T>G;3753G>A]

ENST00000426809.5:c.[3679T>G;3754T=]

ENST00000426809.5:c.[3679T>G;3755G=]

ENST00000426809.5:c.[3679T>G;3756G=]

ENST00000426809.5:c.[3679T>G;3757A>C]

ENST00000426809.5:c.[3679T>G;3758G=]

ENST00000426809.5:c.[3679T>G;3759G>A]

ENST00000426809.5:c.[3679T>G;3759G=]

ENST00000426809.5:c.[3679T>G;3760_3765del...

ENST00000426809.5:c.[3679T>G;3762A=]

ENST00000426809.5:c.[3679T>G;3762A>G]