Canonical Allele Identifier: CA915945478

Gene: CFTR CFTR-AS1

Linked Data

• ClinVar Variation Id: 818155
• ClinVar RCV Id: RCV001009524
• dbSNP Id: rs1805177

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117548632_117548635del , CM000669.2:g.117548632_117548635del	GRCh38
NC_000007.13:g.117188686_117188689del , CM000669.1:g.117188686_117188689del	GRCh37
NC_000007.12:g.116975922_116975925del	NCBI36
NG_016465.4:g.87849_87852del , LRG_663:g.87849_87852del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647720.2:c.1210-9_1210-6del (CFTR)	ENSP00000497673.2:n.1210-9_1210-6del
ENST00000647978.2:c.*1106+6524_*1106+6527del (CFTR)	ENSP00000497658.1:n.*1106+6524_*1106+6527del
ENST00000649781.2:c.1209+6524_1209+6527del (CFTR)	ENSP00000497203.1:n.1209+6524_1209+6527del
ENST00000685018.2:c.1210-9_1210-6del (CFTR)	ENSP00000510194.2:n.1210-9_1210-6del
ENST00000687278.2:c.1210-9_1210-6del (CFTR)	ENSP00000509593.2:n.1210-9_1210-6del
ENST00000699585.1:c.1210-9_1210-6del (CFTR)	ENSP00000514456.1:n.1210-9_1210-6del
ENST00000699596.1:c.1210-9_1210-6del (CFTR)	ENSP00000514465.1:n.1210-9_1210-6del
ENST00000699597.1:c.1210-9_1210-6del (CFTR)	ENSP00000514466.1:n.1210-9_1210-6del
ENST00000699598.1:c.1210-9_1210-6del (CFTR)	ENSP00000514467.1:n.1210-9_1210-6del
ENST00000699599.1:c.1210-9_1210-6del (CFTR)	ENSP00000514468.1:n.1210-9_1210-6del
ENST00000699600.1:c.1210-9_1210-6del (CFTR)	ENSP00000514469.1:n.1210-9_1210-6del
ENST00000699601.1:c.1210-9_1210-6del (CFTR)	ENSP00000514470.1:n.1210-9_1210-6del
ENST00000699602.1:c.1210-9_1210-6del (CFTR)	ENSP00000514471.1:n.1210-9_1210-6del
ENST00000699604.1:c.*1034-9_*1034-6del (CFTR)	ENSP00000514472.1:n.*1034-9_*1034-6del
ENST00000699605.1:c.966+6524_966+6527del (CFTR)	ENSP00000514473.1:n.966+6524_966+6527del
ENST00000003084.11:c.1210-9_1210-6del (CFTR) MANE Select	ENSP00000003084.6:n.1210-9_1210-6del
ENST00000647978.1:c.*1106+6524_*1106+6527del (CFTR)	ENSP00000497658.1:n.*1106+6524_*1106+6527del
ENST00000648260.1:c.1209+6524_1209+6527del (CFTR)	ENSP00000497957.1:n.1209+6524_1209+6527del
ENST00000649406.1:c.1209+6524_1209+6527del (CFTR)	ENSP00000497965.1:n.1209+6524_1209+6527del
ENST00000649781.1:c.1209+6524_1209+6527del (CFTR)	ENSP00000497203.1:n.1209+6524_1209+6527del
ENST00000673785.1:c.967-9_967-6del (CFTR)	ENSP00000501235.1:n.967-9_967-6del
ENST00000003084.10:c.1210-9_1210-6del (CFTR)	ENSP00000003084.6:n.1210-9_1210-6del
ENST00000426809.5:c.1120-9_1120-6del (CFTR)	ENSP00000389119.1:n.1120-9_1120-6del
NM_000492.3:c.1210-9_1210-6del , LRG_663t1:c.1210-9_1210-6del (CFTR)	NP_000483.3:n.1210-9_1210-6del
XM_011515751.1:c.1300-9_1300-6del (CFTR)	XP_011514053.1:n.1300-9_1300-6del
XM_011515752.1:c.1300-9_1300-6del (CFTR)	XP_011514054.1:n.1300-9_1300-6del
XM_011515753.1:c.967-9_967-6del (CFTR)	XP_011514055.1:n.967-9_967-6del
XM_011515754.1:c.967-9_967-6del (CFTR)	XP_011514056.1:n.967-9_967-6del
NR_149084.1:n.222-6093_222-6090del (CFTR-AS1)
NM_000492.4:c.1210-9_1210-6del (CFTR) MANE Select	NP_000483.3:n.1210-9_1210-6del