Canonical Allele Identifier: CA2580614243

Gene: CFTR

Linked Data

• ClinVar Variation Id: 2501081
• ClinVar RCV Id: RCV003226678

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117664670_117664672delinsCAG , CM000669.2:g.117664670_117664672delinsCAG	GRCh38
NC_000007.13:g.117304724_117304726delinsCAG , CM000669.1:g.117304724_117304726delinsCAG	GRCh37
NC_000007.12:g.117091960_117091962delinsCAG	NCBI36
NG_016465.4:g.203887_203889delinsCAG , LRG_663:g.203887_203889delinsCAG

Transcript Alleles

HGVS	Amino-acid change
ENST00000647720.2:c.*173-18_*173-16delinsCAG	ENSP00000497673.2:n.*173-18_*173-16delins...
ENST00000647978.2:c.*3678-18_*3678-16delinsCAG	ENSP00000497658.1:n.*3678-18_*3678-16deli...
ENST00000649781.2:c.3781-18_3781-16delinsCAG	ENSP00000497203.1:n.3781-18_3781-16delins...
ENST00000685018.2:c.*177-18_*177-16delinsCAG	ENSP00000510194.2:n.*177-18_*177-16delins...
ENST00000687278.2:c.*617-18_*617-16delinsCAG	ENSP00000509593.2:n.*617-18_*617-16delins...
ENST00000699585.1:c.*173-18_*173-16delinsCAG	ENSP00000514456.1:n.*173-18_*173-16delins...
ENST00000699598.1:c.3964-18_3964-16delinsCAG	ENSP00000514467.1:n.3964-18_3964-16delins...
ENST00000699599.1:c.*177-18_*177-16delinsCAG	ENSP00000514468.1:n.*177-18_*177-16delins...
ENST00000699600.1:c.*625-18_*625-16delinsCAG	ENSP00000514469.1:n.*625-18_*625-16delins...
ENST00000699601.1:c.*2339-18_*2339-16delinsCAG	ENSP00000514470.1:n.*2339-18_*2339-16deli...
ENST00000699602.1:c.3958-18_3958-16delinsCAG	ENSP00000514471.1:n.3958-18_3958-16delins...
ENST00000699604.1:c.*3788-18_*3788-16delinsCAG	ENSP00000514472.1:n.*3788-18_*3788-16deli...
ENST00000699605.1:c.3538-18_3538-16delinsCAG	ENSP00000514473.1:n.3538-18_3538-16delins...
ENST00000699606.1:n.2132-18_2132-16delinsCAG
ENST00000685018.1:c.828-18_828-16delinsCAG	ENSP00000510194.1:n.828-18_828-16delinsCA...
ENST00000687278.1:c.1751-18_1751-16delinsCAG	ENSP00000509593.1:n.1751-18_1751-16delins...
ENST00000689011.1:c.546-18_546-16delinsCAG
ENST00000003084.11:c.3964-18_3964-16delinsCAG MANE Select	ENSP00000003084.6:n.3964-18_3964-16delins...
ENST00000647720.1:c.1414-18_1414-16delinsCAG
ENST00000649781.1:c.3781-18_3781-16delinsCAG	ENSP00000497203.1:n.3781-18_3781-16delins...
ENST00000003084.10:c.3964-18_3964-16delinsCAG	ENSP00000003084.6:n.3964-18_3964-16delins...
ENST00000426809.5:c.3874-18_3874-16delinsCAG	ENSP00000389119.1:n.3874-18_3874-16delins...
ENST00000600166.1:c.90-18_90-16delinsCAG
NM_000492.3:c.3964-18_3964-16delinsCAG , LRG_663t1:c.3964-18_3964-16delinsCAG	NP_000483.3:n.3964-18_3964-16delinsCAG
XM_011515751.1:c.4054-18_4054-16delinsCAG	XP_011514053.1:n.4054-18_4054-16delinsCAG...
XM_011515752.1:c.4054-18_4054-16delinsCAG	XP_011514054.1:n.4054-18_4054-16delinsCAG...
XM_011515753.1:c.3721-18_3721-16delinsCAG	XP_011514055.1:n.3721-18_3721-16delinsCAG...
XM_011515754.1:c.3721-18_3721-16delinsCAG	XP_011514056.1:n.3721-18_3721-16delinsCAG...
NM_000492.4:c.3964-18_3964-16delinsCAG MANE Select	NP_000483.3:n.3964-18_3964-16delinsCAG