Canonical Allele Identifier: CA2579000296

Gene: CFTR

Linked Data

• ClinVar Variation Id: 2714431
• ClinVar RCV Id: RCV003508287

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117603796_117603803dup , CM000669.2:g.117603796_117603803dup	GRCh38
NC_000007.13:g.117243850_117243857dup , CM000669.1:g.117243850_117243857dup	GRCh37
NC_000007.12:g.117031086_117031093dup	NCBI36
NG_016465.4:g.143013_143020dup , LRG_663:g.143013_143020dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647720.2:c.2908+14_2908+21dup	ENSP00000497673.2:n.2908+14_2908+21dup
ENST00000647978.2:c.*2622+14_*2622+21dup	ENSP00000497658.1:n.*2622+14_*2622+21dup
ENST00000649781.2:c.2725+14_2725+21dup	ENSP00000497203.1:n.2725+14_2725+21dup
ENST00000685018.2:c.2908+14_2908+21dup	ENSP00000510194.2:n.2908+14_2908+21dup
ENST00000687278.2:c.2908+14_2908+21dup	ENSP00000509593.2:n.2908+14_2908+21dup
ENST00000699585.1:c.2908+14_2908+21dup	ENSP00000514456.1:n.2908+14_2908+21dup
ENST00000699598.1:c.2908+14_2908+21dup	ENSP00000514467.1:n.2908+14_2908+21dup
ENST00000699599.1:c.2908+14_2908+21dup	ENSP00000514468.1:n.2908+14_2908+21dup
ENST00000699600.1:c.2908+14_2908+21dup	ENSP00000514469.1:n.2908+14_2908+21dup
ENST00000699601.1:c.*1208+14_*1208+21dup	ENSP00000514470.1:n.*1208+14_*1208+21dup
ENST00000699602.1:c.2908+14_2908+21dup	ENSP00000514471.1:n.2908+14_2908+21dup
ENST00000699604.1:c.*2732+14_*2732+21dup	ENSP00000514472.1:n.*2732+14_*2732+21dup
ENST00000699605.1:c.2482+14_2482+21dup	ENSP00000514473.1:n.2482+14_2482+21dup
ENST00000687278.1:c.499+14_499+21dup	ENSP00000509593.1:n.499+14_499+21dup
ENST00000003084.11:c.2908+14_2908+21dup MANE Select	ENSP00000003084.6:n.2908+14_2908+21dup
ENST00000647720.1:c.558+14_558+21dup
ENST00000648260.1:c.1690+14_1690+21dup	ENSP00000497957.1:n.1690+14_1690+21dup
ENST00000649406.1:c.2725+14_2725+21dup	ENSP00000497965.1:n.2725+14_2725+21dup
ENST00000649781.1:c.2725+14_2725+21dup	ENSP00000497203.1:n.2725+14_2725+21dup
ENST00000003084.10:c.2908+14_2908+21dup	ENSP00000003084.6:n.2908+14_2908+21dup
ENST00000426809.5:c.2818+14_2818+21dup	ENSP00000389119.1:n.2818+14_2818+21dup
NM_000492.3:c.2908+14_2908+21dup , LRG_663t1:c.2908+14_2908+21dup	NP_000483.3:n.2908+14_2908+21dup
XM_011515751.1:c.2998+14_2998+21dup	XP_011514053.1:n.2998+14_2998+21dup
XM_011515752.1:c.2998+14_2998+21dup	XP_011514054.1:n.2998+14_2998+21dup
XM_011515753.1:c.2665+14_2665+21dup	XP_011514055.1:n.2665+14_2665+21dup
XM_011515754.1:c.2665+14_2665+21dup	XP_011514056.1:n.2665+14_2665+21dup
NM_000492.4:c.2908+14_2908+21dup MANE Select	NP_000483.3:n.2908+14_2908+21dup