Canonical Allele Identifier: CA221018
Gene: CFTR HGNC NCBI

Linked Data

ClinVar Variation Id: 7224
dbSNP Id: rs75096551

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.117606754G>A , CM000669.2:g.117606754G>A GRCh38
NC_000007.13:g.117246808G>A , CM000669.1:g.117246808G>A GRCh37
NC_000007.12:g.117034044G>A NCBI36
NG_016465.4:g.145971G>A , LRG_663:g.145971G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000003084.11:c.2988+1G>A MANE Select ENSP00000003084.6:p.=
ENST00000647720.1:n.638+1G>A
ENST00000648260.1:c.1770+1G>A ENSP00000497957.1:p.=
ENST00000649406.1:c.2805+1G>A ENSP00000497965.1:p.=
ENST00000649781.1:n.2805+1G>A ENSP00000497203.1:p.=
ENST00000003084.10:c.2988+1G>A ENSP00000003084.6:p.=
ENST00000426809.5:n.2898+1G>A ENSP00000389119.1:p.=
NM_000492.3:c.2988+1G>A , LRG_663t1:c.2988+1G>A NP_000483.3:p.=
XM_011515751.1:c.3078+1G>A XP_011514053.1:p.=
XM_011515752.1:c.3078+1G>A XP_011514054.1:p.=
XM_011515753.1:c.2745+1G>A XP_011514055.1:p.=
XM_011515754.1:c.2745+1G>A XP_011514056.1:p.=
NM_000492.4:c.2988+1G>A MANE Select NP_000483.3:p.=