Canonical Allele Identifier: CA1737375504

Gene: CFTR

Linked Data

• dbSNP Id: rs1792263156

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117603757_117603760dup , CM000669.2:g.117603757_117603760dup	GRCh38
NC_000007.13:g.117243811_117243814dup , CM000669.1:g.117243811_117243814dup	GRCh37
NC_000007.12:g.117031047_117031050dup	NCBI36
NG_016465.4:g.142974_142977dup , LRG_663:g.142974_142977dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647720.2:c.2883_2886dup	ENSP00000497673.2:p.Thr963ValfsTer13
ENST00000647978.2:c.*2597_*2600dup	ENSP00000497658.1:n.*2597_*2600dup
ENST00000649781.2:c.2700_2703dup	ENSP00000497203.1:p.Thr902ValfsTer13
ENST00000685018.2:c.2883_2886dup	ENSP00000510194.2:p.Thr963ValfsTer13
ENST00000687278.2:c.2883_2886dup	ENSP00000509593.2:p.Thr963ValfsTer13
ENST00000699585.1:c.2883_2886dup	ENSP00000514456.1:p.Thr963ValfsTer13
ENST00000699598.1:c.2883_2886dup	ENSP00000514467.1:p.Thr963ValfsTer13
ENST00000699599.1:c.2883_2886dup	ENSP00000514468.1:p.Thr963ValfsTer13
ENST00000699600.1:c.2883_2886dup	ENSP00000514469.1:p.Thr963ValfsTer13
ENST00000699601.1:c.*1183_*1186dup	ENSP00000514470.1:n.*1183_*1186dup
ENST00000699602.1:c.2883_2886dup	ENSP00000514471.1:p.Thr963ValfsTer13
ENST00000699604.1:c.*2707_*2710dup	ENSP00000514472.1:n.*2707_*2710dup
ENST00000699605.1:c.2457_2460dup	ENSP00000514473.1:p.Thr821ValfsTer13
ENST00000687278.1:c.474_477dup	ENSP00000509593.1:p.Thr160ValfsTer13
ENST00000003084.11:c.2883_2886dup MANE Select	ENSP00000003084.6:p.Thr963ValfsTer13
ENST00000647720.1:c.533_536dup
ENST00000648260.1:c.1665_1668dup	ENSP00000497957.1:p.Thr557ValfsTer13
ENST00000649406.1:c.2700_2703dup	ENSP00000497965.1:p.Thr902ValfsTer13
ENST00000649781.1:c.2700_2703dup	ENSP00000497203.1:p.Thr902ValfsTer13
ENST00000003084.10:c.2883_2886dup	ENSP00000003084.6:p.Thr963ValfsTer13
ENST00000426809.5:c.2793_2796dup	ENSP00000389119.1:p.Thr933ValfsTer13
NM_000492.3:c.2883_2886dup , LRG_663t1:c.2883_2886dup	NP_000483.3:p.Thr963ValfsTer13
XM_011515751.1:c.2973_2976dup	XP_011514053.1:p.Thr993ValfsTer13
XM_011515752.1:c.2973_2976dup	XP_011514054.1:p.Thr993ValfsTer13
XM_011515753.1:c.2640_2643dup	XP_011514055.1:p.Thr882ValfsTer13
XM_011515754.1:c.2640_2643dup	XP_011514056.1:p.Thr882ValfsTer13
NM_000492.4:c.2883_2886dup MANE Select	NP_000483.3:p.Thr963ValfsTer13