Canonical Allele Identifier: CA2695208375
Gene: CFTR HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.117627550del , CM000669.2:g.117627550del GRCh38
NC_000007.13:g.117267604del , CM000669.1:g.117267604del GRCh37
NC_000007.12:g.117054840del NCBI36
NG_016465.4:g.166767del , LRG_663:g.166767del

Transcript Alleles

HGVS Amino-acid Change
ENST00000647720.2:c.3497del ENSP00000497673.2:p.Phe1166SerfsTer?
ENST00000647978.2:c.*3211del ENSP00000497658.1:n.*3211del
ENST00000649781.2:c.3314del ENSP00000497203.1:p.Phe1105SerfsTer26
ENST00000685018.2:c.3497del ENSP00000510194.2:p.Phe1166SerfsTer26
ENST00000687278.2:c.*150del ENSP00000509593.2:n.*150del
ENST00000699585.1:c.3497del ENSP00000514456.1:p.Phe1166SerfsTer?
ENST00000699598.1:c.3497del ENSP00000514467.1:p.Phe1166SerfsTer26
ENST00000699599.1:c.3497del ENSP00000514468.1:p.Phe1166SerfsTer26
ENST00000699600.1:c.*158del ENSP00000514469.1:n.*158del
ENST00000699601.1:c.*1872del ENSP00000514470.1:n.*1872del
ENST00000699602.1:c.3491del ENSP00000514471.1:p.Phe1164SerfsTer26
ENST00000699604.1:c.*3321del ENSP00000514472.1:n.*3321del
ENST00000699605.1:c.3071del ENSP00000514473.1:p.Phe1024SerfsTer26
ENST00000685018.1:c.245del ENSP00000510194.1:p.Phe82SerfsTer26
ENST00000687278.1:c.1284del ENSP00000509593.1:n.1284del
ENST00000689011.1:c.79del
ENST00000003084.11:c.3497del MANE Select ENSP00000003084.6:p.Phe1166SerfsTer26
ENST00000647720.1:c.1147del
ENST00000648260.1:c.2279del ENSP00000497957.1:p.Phe760SerfsTer26
ENST00000649406.1:c.3314del ENSP00000497965.1:p.Phe1105SerfsTer26
ENST00000649781.1:c.3314del ENSP00000497203.1:p.Phe1105SerfsTer26
ENST00000003084.10:c.3497del ENSP00000003084.6:p.Phe1166SerfsTer26
ENST00000426809.5:c.3407del ENSP00000389119.1:p.Phe1136SerfsTer26
ENST00000468795.1:c.322del
NM_000492.3:c.3497del , LRG_663t1:c.3497del NP_000483.3:p.Phe1166SerfsTer26
XM_011515751.1:c.3587del XP_011514053.1:p.Phe1196SerfsTer26
XM_011515752.1:c.3587del XP_011514054.1:p.Phe1196SerfsTer26
XM_011515753.1:c.3254del XP_011514055.1:p.Phe1085SerfsTer26
XM_011515754.1:c.3254del XP_011514056.1:p.Phe1085SerfsTer26
NM_000492.4:c.3497del MANE Select NP_000483.3:p.Phe1166SerfsTer26