Canonical Allele Identifier: CA1737375168

Gene: CFTR

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117603687T= , CM000669.2:g.117603687T=	GRCh38
NC_000007.13:g.117243741T= , CM000669.1:g.117243741T=	GRCh37
NC_000007.12:g.117030977T=	NCBI36
NG_016465.4:g.142904T= , LRG_663:g.142904T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647720.2:c.2813T=	ENSP00000497673.2:p.Val938=
ENST00000647978.2:c.*2527T=	ENSP00000497658.1:n.*2527T=
ENST00000649781.2:c.2630T=	ENSP00000497203.1:p.Val877=
ENST00000685018.2:c.2813T=	ENSP00000510194.2:p.Val938=
ENST00000687278.2:c.2813T=	ENSP00000509593.2:p.Val938=
ENST00000699585.1:c.2813T=	ENSP00000514456.1:p.Val938=
ENST00000699598.1:c.2813T=	ENSP00000514467.1:p.Val938=
ENST00000699599.1:c.2813T=	ENSP00000514468.1:p.Val938=
ENST00000699600.1:c.2813T=	ENSP00000514469.1:p.Val938=
ENST00000699601.1:c.*1113T=	ENSP00000514470.1:n.*1113T=
ENST00000699602.1:c.2813T=	ENSP00000514471.1:p.Val938=
ENST00000699604.1:c.*2637T=	ENSP00000514472.1:n.*2637T=
ENST00000699605.1:c.2387T=	ENSP00000514473.1:p.Val796=
ENST00000687278.1:c.404T=	ENSP00000509593.1:p.Val135=
ENST00000003084.11:c.2813T= MANE Select	ENSP00000003084.6:p.Val938=
ENST00000647720.1:c.463T=
ENST00000648260.1:c.1595T=	ENSP00000497957.1:p.Val532=
ENST00000649406.1:c.2630T=	ENSP00000497965.1:p.Val877=
ENST00000649781.1:c.2630T=	ENSP00000497203.1:p.Val877=
ENST00000003084.10:c.2813T=	ENSP00000003084.6:p.Val938=
ENST00000426809.5:c.2723T=	ENSP00000389119.1:p.Val908=
NM_000492.3:c.2813T= , LRG_663t1:c.2813T=	NP_000483.3:p.Val938=
XM_011515751.1:c.2903T=	XP_011514053.1:p.Val968=
XM_011515752.1:c.2903T=	XP_011514054.1:p.Val968=
XM_011515753.1:c.2570T=	XP_011514055.1:p.Val857=
XM_011515754.1:c.2570T=	XP_011514056.1:p.Val857=
NM_000492.4:c.2813T= MANE Select	NP_000483.3:p.Val938=