Canonical Allele Identifier: CA913190001

Gene: CFTR CFTR-AS1

Linked Data

• ClinVar Variation Id: 1685618
• ClinVar RCV Id: RCV002249345
• dbSNP Id: rs1562898489

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117559618_117559619del , CM000669.2:g.117559618_117559619del	GRCh38
NC_000007.13:g.117199672_117199673del , CM000669.1:g.117199672_117199673del	GRCh37
NC_000007.12:g.116986908_116986909del	NCBI36
NG_016465.4:g.98835_98836del , LRG_663:g.98835_98836del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647720.2:c.1547_1548del (CFTR)	ENSP00000497673.2:p.Arg516IlefsTer?
ENST00000647978.2:c.*1261_*1262del (CFTR)	ENSP00000497658.1:n.*1261_*1262del
ENST00000649781.2:c.1364_1365del (CFTR)	ENSP00000497203.1:p.Arg455IlefsTer?
ENST00000685018.2:c.1547_1548del (CFTR)	ENSP00000510194.2:p.Arg516IlefsTer?
ENST00000687278.2:c.1547_1548del (CFTR)	ENSP00000509593.2:p.Arg516IlefsTer?
ENST00000699585.1:c.1547_1548del (CFTR)	ENSP00000514456.1:p.Arg516IlefsTer?
ENST00000699596.1:c.1547_1548del (CFTR)	ENSP00000514465.1:p.Arg516IlefsTer?
ENST00000699597.1:c.*105_*106del (CFTR)	ENSP00000514466.1:n.*105_*106del
ENST00000699598.1:c.1547_1548del (CFTR)	ENSP00000514467.1:p.Arg516IlefsTer?
ENST00000699599.1:c.1547_1548del (CFTR)	ENSP00000514468.1:p.Arg516IlefsTer?
ENST00000699600.1:c.1547_1548del (CFTR)	ENSP00000514469.1:p.Arg516IlefsTer?
ENST00000699601.1:c.1547_1548del (CFTR)	ENSP00000514470.1:p.Arg516IlefsTer?
ENST00000699602.1:c.1547_1548del (CFTR)	ENSP00000514471.1:p.Arg516IlefsTer?
ENST00000699604.1:c.*1371_*1372del (CFTR)	ENSP00000514472.1:n.*1371_*1372del
ENST00000699605.1:c.1121_1122del (CFTR)	ENSP00000514473.1:p.Arg374IlefsTer?
ENST00000003084.11:c.1547_1548del (CFTR) MANE Select	ENSP00000003084.6:p.Arg516IlefsTer?
ENST00000647978.1:c.*1261_*1262del (CFTR)	ENSP00000497658.1:n.*1261_*1262del
ENST00000648260.1:c.1364_1365del (CFTR)	ENSP00000497957.1:p.Arg455IlefsTer?
ENST00000649406.1:c.1364_1365del (CFTR)	ENSP00000497965.1:p.Arg455IlefsTer?
ENST00000649781.1:c.1364_1365del (CFTR)	ENSP00000497203.1:p.Arg455IlefsTer?
ENST00000003084.10:c.1547_1548del (CFTR)	ENSP00000003084.6:p.Arg516IlefsTer?
ENST00000426809.5:c.1457_1458del (CFTR)	ENSP00000389119.1:p.Arg486IlefsTer?
NM_000492.3:c.1547_1548del , LRG_663t1:c.1547_1548del (CFTR)	NP_000483.3:p.Arg516IlefsTer?
XM_011515751.1:c.1637_1638del (CFTR)	XP_011514053.1:p.Arg546IlefsTer?
XM_011515752.1:c.1637_1638del (CFTR)	XP_011514054.1:p.Arg546IlefsTer?
XM_011515753.1:c.1304_1305del (CFTR)	XP_011514055.1:p.Arg435IlefsTer?
XM_011515754.1:c.1304_1305del (CFTR)	XP_011514056.1:p.Arg435IlefsTer?
NR_149084.1:n.221+1115_221+1116del (CFTR-AS1)
NM_000492.4:c.1547_1548del (CFTR) MANE Select	NP_000483.3:p.Arg516IlefsTer?