Canonical Allele Identifier: CA2739279629

Gene: CFTR

Linked Data

• ClinVar Variation Id: 2822771
• ClinVar RCV Id: RCV003618566

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117642512del , CM000669.2:g.117642512del	GRCh38
NC_000007.13:g.117282566del , CM000669.1:g.117282566del	GRCh37
NC_000007.12:g.117069802del	NCBI36
NG_016465.4:g.181729del , LRG_663:g.181729del

Transcript Alleles

HGVS	Amino-acid change
ENST00000647720.2:c.*1del	ENSP00000497673.2:n.*1del
ENST00000647978.2:c.*3506del	ENSP00000497658.1:n.*3506del
ENST00000649781.2:c.3609del	ENSP00000497203.1:p.Gly1204GlufsTer13
ENST00000685018.2:c.3792del	ENSP00000510194.2:p.Gly1265GlufsTer13
ENST00000687278.2:c.*445del	ENSP00000509593.2:n.*445del
ENST00000699585.1:c.*1del	ENSP00000514456.1:n.*1del
ENST00000699598.1:c.3792del	ENSP00000514467.1:p.Gly1265GlufsTer13
ENST00000699599.1:c.3792del	ENSP00000514468.1:p.Gly1265GlufsTer13
ENST00000699600.1:c.*453del	ENSP00000514469.1:n.*453del
ENST00000699601.1:c.*2167del	ENSP00000514470.1:n.*2167del
ENST00000699602.1:c.3786del	ENSP00000514471.1:p.Gly1263GlufsTer13
ENST00000699604.1:c.*3616del	ENSP00000514472.1:n.*3616del
ENST00000699605.1:c.3366del	ENSP00000514473.1:p.Gly1123GlufsTer13
ENST00000685018.1:c.540del	ENSP00000510194.1:p.Gly181GlufsTer13
ENST00000687278.1:c.1579del	ENSP00000509593.1:n.1579del
ENST00000689011.1:c.374del
ENST00000003084.11:c.3792del MANE Select	ENSP00000003084.6:p.Gly1265GlufsTer13
ENST00000647720.1:c.1242del
ENST00000649781.1:c.3609del	ENSP00000497203.1:p.Gly1204GlufsTer13
ENST00000003084.10:c.3792del	ENSP00000003084.6:p.Gly1265GlufsTer13
ENST00000426809.5:c.3702del	ENSP00000389119.1:p.Gly1235GlufsTer13
NM_000492.3:c.3792del , LRG_663t1:c.3792del	NP_000483.3:p.Gly1265GlufsTer13
XM_011515751.1:c.3882del	XP_011514053.1:p.Gly1295GlufsTer13
XM_011515752.1:c.3882del	XP_011514054.1:p.Gly1295GlufsTer13
XM_011515753.1:c.3549del	XP_011514055.1:p.Gly1184GlufsTer13
XM_011515754.1:c.3549del	XP_011514056.1:p.Gly1184GlufsTer13
NM_000492.4:c.3792del MANE Select	NP_000483.3:p.Gly1265GlufsTer13