Canonical Allele Identifier: CA327239
Gene: CFTR HGNC NCBI

Linked Data

ClinVar Variation Id: 53777
dbSNP Id: rs397508587

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.117627658del , CM000669.2:g.117627658del GRCh38
NC_000007.13:g.117267712del , CM000669.1:g.117267712del GRCh37
NC_000007.12:g.117054948del NCBI36
NG_016465.4:g.166875del , LRG_663:g.166875del

Transcript Alleles

HGVS Amino-acid change
ENST00000647720.2:c.3517+88del ENSP00000497673.2:n.3517+88del
ENST00000647978.2:c.*3319del ENSP00000497658.1:n.*3319del
ENST00000649781.2:c.3422del ENSP00000497203.1:p.Asp1141AlafsTer9
ENST00000685018.2:c.3605del ENSP00000510194.2:p.Asp1202AlafsTer9
ENST00000687278.2:c.*258del ENSP00000509593.2:n.*258del
ENST00000699585.1:c.3517+88del ENSP00000514456.1:n.3517+88del
ENST00000699598.1:c.3605del ENSP00000514467.1:p.Asp1202AlafsTer9
ENST00000699599.1:c.3605del ENSP00000514468.1:p.Asp1202AlafsTer9
ENST00000699600.1:c.*266del ENSP00000514469.1:n.*266del
ENST00000699601.1:c.*1980del ENSP00000514470.1:n.*1980del
ENST00000699602.1:c.3599del ENSP00000514471.1:p.Asp1200AlafsTer9
ENST00000699604.1:c.*3429del ENSP00000514472.1:n.*3429del
ENST00000699605.1:c.3179del ENSP00000514473.1:p.Asp1060AlafsTer9
ENST00000685018.1:c.353del ENSP00000510194.1:p.Asp118AlafsTer9
ENST00000687278.1:c.1392del ENSP00000509593.1:n.1392del
ENST00000689011.1:c.187del
ENST00000003084.11:c.3605del MANE Select ENSP00000003084.6:p.Asp1202AlafsTer9
ENST00000647720.1:c.1167+88del
ENST00000648260.1:c.2387del ENSP00000497957.1:p.Asp796AlafsTer9
ENST00000649406.1:c.3422del ENSP00000497965.1:p.Asp1141AlafsTer9
ENST00000649781.1:c.3422del ENSP00000497203.1:p.Asp1141AlafsTer9
ENST00000003084.10:c.3605del ENSP00000003084.6:p.Asp1202AlafsTer9
ENST00000426809.5:c.3515del ENSP00000389119.1:p.Asp1172AlafsTer9
ENST00000468795.1:c.430del
NM_000492.3:c.3605del , LRG_663t1:c.3605del NP_000483.3:p.Asp1202AlafsTer9
XM_011515751.1:c.3695del XP_011514053.1:p.Asp1232AlafsTer9
XM_011515752.1:c.3695del XP_011514054.1:p.Asp1232AlafsTer9
XM_011515753.1:c.3362del XP_011514055.1:p.Asp1121AlafsTer9
XM_011515754.1:c.3362del XP_011514056.1:p.Asp1121AlafsTer9
NM_000492.4:c.3605del MANE Select NP_000483.3:p.Asp1202AlafsTer9