Canonical Allele Identifier: CA2573052804

Gene: CFTR

Linked Data

• ClinVar Variation Id: 1332860
• ClinVar RCV Id: RCV001806434
• dbSNP Id: rs2116062196

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117603722del , CM000669.2:g.117603722del	GRCh38
NC_000007.13:g.117243776del , CM000669.1:g.117243776del	GRCh37
NC_000007.12:g.117031012del	NCBI36
NG_016465.4:g.142939del , LRG_663:g.142939del

Transcript Alleles

HGVS	Amino-acid change
ENST00000647720.2:c.2848del	ENSP00000497673.2:p.His950ThrfsTer18
ENST00000647978.2:c.*2562del	ENSP00000497658.1:n.*2562del
ENST00000649781.2:c.2665del	ENSP00000497203.1:p.His889ThrfsTer18
ENST00000685018.2:c.2848del	ENSP00000510194.2:p.His950ThrfsTer18
ENST00000687278.2:c.2848del	ENSP00000509593.2:p.His950ThrfsTer18
ENST00000699585.1:c.2848del	ENSP00000514456.1:p.His950ThrfsTer18
ENST00000699598.1:c.2848del	ENSP00000514467.1:p.His950ThrfsTer18
ENST00000699599.1:c.2848del	ENSP00000514468.1:p.His950ThrfsTer18
ENST00000699600.1:c.2848del	ENSP00000514469.1:p.His950ThrfsTer18
ENST00000699601.1:c.*1148del	ENSP00000514470.1:n.*1148del
ENST00000699602.1:c.2848del	ENSP00000514471.1:p.His950ThrfsTer18
ENST00000699604.1:c.*2672del	ENSP00000514472.1:n.*2672del
ENST00000699605.1:c.2422del	ENSP00000514473.1:p.His808ThrfsTer18
ENST00000687278.1:c.439del	ENSP00000509593.1:p.His147ThrfsTer18
ENST00000003084.11:c.2848del MANE Select	ENSP00000003084.6:p.His950ThrfsTer18
ENST00000647720.1:c.498del
ENST00000648260.1:c.1630del	ENSP00000497957.1:p.His544ThrfsTer18
ENST00000649406.1:c.2665del	ENSP00000497965.1:p.His889ThrfsTer18
ENST00000649781.1:c.2665del	ENSP00000497203.1:p.His889ThrfsTer18
ENST00000003084.10:c.2848del	ENSP00000003084.6:p.His950ThrfsTer18
ENST00000426809.5:c.2758del	ENSP00000389119.1:p.His920ThrfsTer18
NM_000492.3:c.2848del , LRG_663t1:c.2848del	NP_000483.3:p.His950ThrfsTer18
XM_011515751.1:c.2938del	XP_011514053.1:p.His980ThrfsTer18
XM_011515752.1:c.2938del	XP_011514054.1:p.His980ThrfsTer18
XM_011515753.1:c.2605del	XP_011514055.1:p.His869ThrfsTer18
XM_011515754.1:c.2605del	XP_011514056.1:p.His869ThrfsTer18
NM_000492.4:c.2848del MANE Select	NP_000483.3:p.His950ThrfsTer18