Canonical Allele Identifier: CA2695199622
Gene: CFTR HGNC NCBI

Linked Data

ClinVar Variation Id: 2680721
ClinVar RCV Id: RCV003468373

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.117603702del , CM000669.2:g.117603702del GRCh38
NC_000007.13:g.117243756del , CM000669.1:g.117243756del GRCh37
NC_000007.12:g.117030992del NCBI36
NG_016465.4:g.142919del , LRG_663:g.142919del

Transcript Alleles

HGVS Amino-acid Change
ENST00000647720.2:c.2828del ENSP00000497673.2:p.Thr943LysfsTer25
ENST00000647978.2:c.*2542del ENSP00000497658.1:n.*2542del
ENST00000649781.2:c.2645del ENSP00000497203.1:p.Thr882LysfsTer25
ENST00000685018.2:c.2828del ENSP00000510194.2:p.Thr943LysfsTer25
ENST00000687278.2:c.2828del ENSP00000509593.2:p.Thr943LysfsTer25
ENST00000699585.1:c.2828del ENSP00000514456.1:p.Thr943LysfsTer25
ENST00000699598.1:c.2828del ENSP00000514467.1:p.Thr943LysfsTer25
ENST00000699599.1:c.2828del ENSP00000514468.1:p.Thr943LysfsTer25
ENST00000699600.1:c.2828del ENSP00000514469.1:p.Thr943LysfsTer25
ENST00000699601.1:c.*1128del ENSP00000514470.1:n.*1128del
ENST00000699602.1:c.2828del ENSP00000514471.1:p.Thr943LysfsTer25
ENST00000699604.1:c.*2652del ENSP00000514472.1:n.*2652del
ENST00000699605.1:c.2402del ENSP00000514473.1:p.Thr801LysfsTer25
ENST00000687278.1:c.419del ENSP00000509593.1:p.Thr140LysfsTer25
ENST00000003084.11:c.2828del MANE Select ENSP00000003084.6:p.Thr943LysfsTer25
ENST00000647720.1:c.478del
ENST00000648260.1:c.1610del ENSP00000497957.1:p.Thr537LysfsTer25
ENST00000649406.1:c.2645del ENSP00000497965.1:p.Thr882LysfsTer25
ENST00000649781.1:c.2645del ENSP00000497203.1:p.Thr882LysfsTer25
ENST00000003084.10:c.2828del ENSP00000003084.6:p.Thr943LysfsTer25
ENST00000426809.5:c.2738del ENSP00000389119.1:p.Thr913LysfsTer25
NM_000492.3:c.2828del , LRG_663t1:c.2828del NP_000483.3:p.Thr943LysfsTer25
XM_011515751.1:c.2918del XP_011514053.1:p.Thr973LysfsTer25
XM_011515752.1:c.2918del XP_011514054.1:p.Thr973LysfsTer25
XM_011515753.1:c.2585del XP_011514055.1:p.Thr862LysfsTer25
XM_011515754.1:c.2585del XP_011514056.1:p.Thr862LysfsTer25
NM_000492.4:c.2828del MANE Select NP_000483.3:p.Thr943LysfsTer25