Canonical Allele Identifier: CA2580076354

Gene: CFTR

Linked Data

• ClinVar Variation Id: 1734976
• ClinVar RCV Id: RCV002353097

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117642515del , CM000669.2:g.117642515del	GRCh38
NC_000007.13:g.117282569del , CM000669.1:g.117282569del	GRCh37
NC_000007.12:g.117069805del	NCBI36
NG_016465.4:g.181732del , LRG_663:g.181732del

Transcript Alleles

HGVS	Amino-acid change
ENST00000647720.2:c.*4del	ENSP00000497673.2:n.*4del
ENST00000647978.2:c.*3509del	ENSP00000497658.1:n.*3509del
ENST00000649781.2:c.3612del	ENSP00000497203.1:p.Glu1205LysfsTer12
ENST00000685018.2:c.3795del	ENSP00000510194.2:p.Glu1266LysfsTer12
ENST00000687278.2:c.*448del	ENSP00000509593.2:n.*448del
ENST00000699585.1:c.*4del	ENSP00000514456.1:n.*4del
ENST00000699598.1:c.3795del	ENSP00000514467.1:p.Glu1266LysfsTer12
ENST00000699599.1:c.3795del	ENSP00000514468.1:p.Glu1266LysfsTer12
ENST00000699600.1:c.*456del	ENSP00000514469.1:n.*456del
ENST00000699601.1:c.*2170del	ENSP00000514470.1:n.*2170del
ENST00000699602.1:c.3789del	ENSP00000514471.1:p.Glu1264LysfsTer12
ENST00000699604.1:c.*3619del	ENSP00000514472.1:n.*3619del
ENST00000699605.1:c.3369del	ENSP00000514473.1:p.Glu1124LysfsTer12
ENST00000685018.1:c.543del	ENSP00000510194.1:p.Glu182LysfsTer12
ENST00000687278.1:c.1582del	ENSP00000509593.1:n.1582del
ENST00000689011.1:c.377del
ENST00000003084.11:c.3795del MANE Select	ENSP00000003084.6:p.Glu1266LysfsTer12
ENST00000647720.1:c.1245del
ENST00000649781.1:c.3612del	ENSP00000497203.1:p.Glu1205LysfsTer12
ENST00000003084.10:c.3795del	ENSP00000003084.6:p.Glu1266LysfsTer12
ENST00000426809.5:c.3705del	ENSP00000389119.1:p.Glu1236LysfsTer12
NM_000492.3:c.3795del , LRG_663t1:c.3795del	NP_000483.3:p.Glu1266LysfsTer12
XM_011515751.1:c.3885del	XP_011514053.1:p.Glu1296LysfsTer12
XM_011515752.1:c.3885del	XP_011514054.1:p.Glu1296LysfsTer12
XM_011515753.1:c.3552del	XP_011514055.1:p.Glu1185LysfsTer12
XM_011515754.1:c.3552del	XP_011514056.1:p.Glu1185LysfsTer12
NM_000492.4:c.3795del MANE Select	NP_000483.3:p.Glu1266LysfsTer12