Canonical Allele Identifier: CA1737407122

Gene: CFTR

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117666779T= , CM000669.2:g.117666779T=	GRCh38
NC_000007.13:g.117306833T= , CM000669.1:g.117306833T=	GRCh37
NC_000007.12:g.117094069T=	NCBI36
NG_016465.4:g.205996T= , LRG_663:g.205996T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647720.2:c.*452-129T=	ENSP00000497673.2:n.*452-129T=
ENST00000647978.2:c.*3957-129T=	ENSP00000497658.1:n.*3957-129T=
ENST00000649781.2:c.4060-129T=	ENSP00000497203.1:n.4060-129T=
ENST00000685018.2:c.*456-129T=	ENSP00000510194.2:n.*456-129T=
ENST00000687278.2:c.*896-823T=	ENSP00000509593.2:n.*896-823T=
ENST00000699585.1:c.*583T=	ENSP00000514456.1:n.*583T=
ENST00000699598.1:c.4243-136T=	ENSP00000514467.1:n.4243-136T=
ENST00000699599.1:c.*456-129T=	ENSP00000514468.1:n.*456-129T=
ENST00000699600.1:c.*904-823T=	ENSP00000514469.1:n.*904-823T=
ENST00000699601.1:c.*2618-129T=	ENSP00000514470.1:n.*2618-129T=
ENST00000699602.1:c.4237-129T=	ENSP00000514471.1:n.4237-129T=
ENST00000699604.1:c.*4067-129T=	ENSP00000514472.1:n.*4067-129T=
ENST00000699605.1:c.3817-129T=	ENSP00000514473.1:n.3817-129T=
ENST00000699606.1:n.3625T=
ENST00000685018.1:c.1107-129T=	ENSP00000510194.1:n.1107-129T=
ENST00000687278.1:c.2030-823T=	ENSP00000509593.1:n.2030-823T=
ENST00000689011.1:c.956T=
ENST00000003084.11:c.4243-129T= MANE Select	ENSP00000003084.6:n.4243-129T=
ENST00000647720.1:c.1693-129T=
ENST00000649781.1:c.4060-129T=	ENSP00000497203.1:n.4060-129T=
ENST00000003084.10:c.4243-129T=	ENSP00000003084.6:n.4243-129T=
ENST00000426809.5:c.4153-129T=	ENSP00000389119.1:n.4153-129T=
ENST00000600166.1:c.368+1215T=
NM_000492.3:c.4243-129T= , LRG_663t1:c.4243-129T=	NP_000483.3:n.4243-129T=
XM_011515751.1:c.4333-129T=	XP_011514053.1:n.4333-129T=
XM_011515752.1:c.*114T=	XP_011514054.1:n.*114T=
XM_011515753.1:c.4000-129T=	XP_011514055.1:n.4000-129T=
XM_011515754.1:c.4000-129T=	XP_011514056.1:n.4000-129T=
NM_000492.4:c.4243-129T= MANE Select	NP_000483.3:n.4243-129T=