Canonical Allele Identifier: CA915945452

Gene: CFTR

Linked Data

• ClinVar Variation Id: 694034
• ClinVar RCV Id: RCV000855426
• dbSNP Id: rs1584848754

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117664696del , CM000669.2:g.117664696del	GRCh38
NC_000007.13:g.117304750del , CM000669.1:g.117304750del	GRCh37
NC_000007.12:g.117091986del	NCBI36
NG_016465.4:g.203913del , LRG_663:g.203913del

Transcript Alleles

HGVS	Amino-acid change
ENST00000647720.2:c.*181del	ENSP00000497673.2:n.*181del
ENST00000647978.2:c.*3686del	ENSP00000497658.1:n.*3686del
ENST00000649781.2:c.3789del	ENSP00000497203.1:p.Arg1264AspfsTer3
ENST00000685018.2:c.*185del	ENSP00000510194.2:n.*185del
ENST00000687278.2:c.*625del	ENSP00000509593.2:n.*625del
ENST00000699585.1:c.*181del	ENSP00000514456.1:n.*181del
ENST00000699598.1:c.3972del	ENSP00000514467.1:p.Arg1325AspfsTer3
ENST00000699599.1:c.*185del	ENSP00000514468.1:n.*185del
ENST00000699600.1:c.*633del	ENSP00000514469.1:n.*633del
ENST00000699601.1:c.*2347del	ENSP00000514470.1:n.*2347del
ENST00000699602.1:c.3966del	ENSP00000514471.1:p.Arg1323AspfsTer3
ENST00000699604.1:c.*3796del	ENSP00000514472.1:n.*3796del
ENST00000699605.1:c.3546del	ENSP00000514473.1:p.Arg1183AspfsTer3
ENST00000699606.1:n.2140del
ENST00000685018.1:c.836del	ENSP00000510194.1:n.836del
ENST00000687278.1:c.1759del	ENSP00000509593.1:n.1759del
ENST00000689011.1:c.554del
ENST00000003084.11:c.3972del MANE Select	ENSP00000003084.6:p.Arg1325AspfsTer3
ENST00000647720.1:c.1422del
ENST00000649781.1:c.3789del	ENSP00000497203.1:p.Arg1264AspfsTer3
ENST00000003084.10:c.3972del	ENSP00000003084.6:p.Arg1325AspfsTer3
ENST00000426809.5:c.3882del	ENSP00000389119.1:p.Arg1295AspfsTer3
ENST00000600166.1:c.98del
NM_000492.3:c.3972del , LRG_663t1:c.3972del	NP_000483.3:p.Arg1325AspfsTer3
XM_011515751.1:c.4062del	XP_011514053.1:p.Arg1355AspfsTer3
XM_011515752.1:c.4062del	XP_011514054.1:p.Arg1355AspfsTer3
XM_011515753.1:c.3729del	XP_011514055.1:p.Arg1244AspfsTer3
XM_011515754.1:c.3729del	XP_011514056.1:p.Arg1244AspfsTer3
NM_000492.4:c.3972del MANE Select	NP_000483.3:p.Arg1325AspfsTer3