Canonical Allele Identifier: CA2573141566

Gene: CFTR

Linked Data

• ClinVar Variation Id: 1387407
• ClinVar RCV Id: RCV001906033
• dbSNP Id: rs2116166758

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117642456del , CM000669.2:g.117642456del	GRCh38
NC_000007.13:g.117282510del , CM000669.1:g.117282510del	GRCh37
NC_000007.12:g.117069746del	NCBI36
NG_016465.4:g.181673del , LRG_663:g.181673del

Transcript Alleles

HGVS	Amino-acid change
ENST00000647720.2:c.3536del	ENSP00000497673.2:p.Asn1179ThrfsTer?
ENST00000647978.2:c.*3450del	ENSP00000497658.1:n.*3450del
ENST00000649781.2:c.3553del	ENSP00000497203.1:p.Thr1185LeufsTer13
ENST00000685018.2:c.3736del	ENSP00000510194.2:p.Thr1246LeufsTer13
ENST00000687278.2:c.*389del	ENSP00000509593.2:n.*389del
ENST00000699585.1:c.3536del	ENSP00000514456.1:p.Asn1179ThrfsTer?
ENST00000699598.1:c.3736del	ENSP00000514467.1:p.Thr1246LeufsTer13
ENST00000699599.1:c.3736del	ENSP00000514468.1:p.Thr1246LeufsTer13
ENST00000699600.1:c.*397del	ENSP00000514469.1:n.*397del
ENST00000699601.1:c.*2111del	ENSP00000514470.1:n.*2111del
ENST00000699602.1:c.3730del	ENSP00000514471.1:p.Thr1244LeufsTer13
ENST00000699604.1:c.*3560del	ENSP00000514472.1:n.*3560del
ENST00000699605.1:c.3310del	ENSP00000514473.1:p.Thr1104LeufsTer13
ENST00000685018.1:c.484del	ENSP00000510194.1:p.Thr162LeufsTer13
ENST00000687278.1:c.1523del	ENSP00000509593.1:n.1523del
ENST00000689011.1:c.318del
ENST00000003084.11:c.3736del MANE Select	ENSP00000003084.6:p.Thr1246LeufsTer13
ENST00000647720.1:c.1186del
ENST00000649781.1:c.3553del	ENSP00000497203.1:p.Thr1185LeufsTer13
ENST00000003084.10:c.3736del	ENSP00000003084.6:p.Thr1246LeufsTer13
ENST00000426809.5:c.3646del	ENSP00000389119.1:p.Thr1216LeufsTer13
NM_000492.3:c.3736del , LRG_663t1:c.3736del	NP_000483.3:p.Thr1246LeufsTer13
XM_011515751.1:c.3826del	XP_011514053.1:p.Thr1276LeufsTer13
XM_011515752.1:c.3826del	XP_011514054.1:p.Thr1276LeufsTer13
XM_011515753.1:c.3493del	XP_011514055.1:p.Thr1165LeufsTer13
XM_011515754.1:c.3493del	XP_011514056.1:p.Thr1165LeufsTer13
NM_000492.4:c.3736del MANE Select	NP_000483.3:p.Thr1246LeufsTer13