Canonical Allele Identifier: CA915945426
Gene: CFTR HGNC NCBI

Linked Data

ClinVar Variation Id: 818132
ClinVar RCV Id: RCV001009432
dbSNP Id: rs1584812361

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.117592212del , CM000669.2:g.117592212del GRCh38
NC_000007.13:g.117232266del , CM000669.1:g.117232266del GRCh37
NC_000007.12:g.117019502del NCBI36
NG_016465.4:g.131429del , LRG_663:g.131429del

Transcript Alleles

HGVS Amino-acid change
ENST00000647720.2:c.2045del ENSP00000497673.2:p.Thr682LysfsTer?
ENST00000647978.2:c.*1759del ENSP00000497658.1:n.*1759del
ENST00000649781.2:c.1862del ENSP00000497203.1:p.Thr621LysfsTer?
ENST00000685018.2:c.2045del ENSP00000510194.2:p.Thr682LysfsTer?
ENST00000687278.2:c.2045del ENSP00000509593.2:p.Thr682LysfsTer?
ENST00000699585.1:c.2045del ENSP00000514456.1:p.Thr682LysfsTer?
ENST00000699598.1:c.2045del ENSP00000514467.1:p.Thr682LysfsTer?
ENST00000699599.1:c.2045del ENSP00000514468.1:p.Thr682LysfsTer?
ENST00000699600.1:c.2045del ENSP00000514469.1:p.Thr682LysfsTer?
ENST00000699601.1:c.*345del ENSP00000514470.1:n.*345del
ENST00000699602.1:c.2045del ENSP00000514471.1:p.Thr682LysfsTer?
ENST00000699604.1:c.*1869del ENSP00000514472.1:n.*1869del
ENST00000699605.1:c.1619del ENSP00000514473.1:p.Thr540LysfsTer?
ENST00000003084.11:c.2045del MANE Select ENSP00000003084.6:p.Thr682LysfsTer?
ENST00000647978.1:c.*1759del ENSP00000497658.1:n.*1759del
ENST00000648260.1:c.1402-10614del ENSP00000497957.1:n.1402-10614del
ENST00000649406.1:c.1862del ENSP00000497965.1:p.Thr621LysfsTer?
ENST00000649781.1:c.1862del ENSP00000497203.1:p.Thr621LysfsTer?
ENST00000003084.10:c.2045del ENSP00000003084.6:p.Thr682LysfsTer?
ENST00000426809.5:c.1955del ENSP00000389119.1:p.Thr652LysfsTer?
NM_000492.3:c.2045del , LRG_663t1:c.2045del NP_000483.3:p.Thr682LysfsTer?
XM_011515751.1:c.2135del XP_011514053.1:p.Thr712LysfsTer?
XM_011515752.1:c.2135del XP_011514054.1:p.Thr712LysfsTer?
XM_011515753.1:c.1802del XP_011514055.1:p.Thr601LysfsTer?
XM_011515754.1:c.1802del XP_011514056.1:p.Thr601LysfsTer?
NM_000492.4:c.2045del MANE Select NP_000483.3:p.Thr682LysfsTer?