Canonical Allele Identifier: CA915945448

Gene: CFTR

Linked Data

• ClinVar Variation Id: 640317
• ClinVar RCV Id: RCV000793319
• dbSNP Id: rs1584836961

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117642469_117642471dup , CM000669.2:g.117642469_117642471dup	GRCh38
NC_000007.13:g.117282523_117282525dup , CM000669.1:g.117282523_117282525dup	GRCh37
NC_000007.12:g.117069759_117069761dup	NCBI36
NG_016465.4:g.181686_181688dup , LRG_663:g.181686_181688dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000647720.2:c.3549_3551dup	ENSP00000497673.2:p.Glu1184_Tyr1185insGlu...
ENST00000647978.2:c.*3463_*3465dup	ENSP00000497658.1:n.*3463_*3465dup
ENST00000649781.2:c.3566_3568dup	ENSP00000497203.1:p.Lys1189_Ser1190insLys...
ENST00000685018.2:c.3749_3751dup	ENSP00000510194.2:p.Lys1250_Ser1251insLys...
ENST00000687278.2:c.*402_*404dup	ENSP00000509593.2:n.*402_*404dup
ENST00000699585.1:c.3549_3551dup	ENSP00000514456.1:p.Glu1184_Tyr1185insGlu...
ENST00000699598.1:c.3749_3751dup	ENSP00000514467.1:p.Lys1250_Ser1251insLys...
ENST00000699599.1:c.3749_3751dup	ENSP00000514468.1:p.Lys1250_Ser1251insLys...
ENST00000699600.1:c.*410_*412dup	ENSP00000514469.1:n.*410_*412dup
ENST00000699601.1:c.*2124_*2126dup	ENSP00000514470.1:n.*2124_*2126dup
ENST00000699602.1:c.3743_3745dup	ENSP00000514471.1:p.Lys1248_Ser1249insLys...
ENST00000699604.1:c.*3573_*3575dup	ENSP00000514472.1:n.*3573_*3575dup
ENST00000699605.1:c.3323_3325dup	ENSP00000514473.1:p.Lys1108_Ser1109insLys...
ENST00000685018.1:c.497_499dup	ENSP00000510194.1:p.Lys166_Ser167insLys
ENST00000687278.1:c.1536_1538dup	ENSP00000509593.1:n.1536_1538dup
ENST00000689011.1:c.331_333dup
ENST00000003084.11:c.3749_3751dup MANE Select	ENSP00000003084.6:p.Lys1250_Ser1251insLys...
ENST00000647720.1:c.1199_1201dup
ENST00000649781.1:c.3566_3568dup	ENSP00000497203.1:p.Lys1189_Ser1190insLys...
ENST00000003084.10:c.3749_3751dup	ENSP00000003084.6:p.Lys1250_Ser1251insLys...
ENST00000426809.5:c.3659_3661dup	ENSP00000389119.1:p.Lys1220_Ser1221insLys...
NM_000492.3:c.3749_3751dup , LRG_663t1:c.3749_3751dup	NP_000483.3:p.Lys1250_Ser1251insLys
XM_011515751.1:c.3839_3841dup	XP_011514053.1:p.Lys1280_Ser1281insLys
XM_011515752.1:c.3839_3841dup	XP_011514054.1:p.Lys1280_Ser1281insLys
XM_011515753.1:c.3506_3508dup	XP_011514055.1:p.Lys1169_Ser1170insLys
XM_011515754.1:c.3506_3508dup	XP_011514056.1:p.Lys1169_Ser1170insLys
NM_000492.4:c.3749_3751dup MANE Select	NP_000483.3:p.Lys1250_Ser1251insLys