Canonical Allele Identifier: CA2573141542

Gene: CFTR CFTR-AS1

Linked Data

• ClinVar Variation Id: 1438022
• ClinVar RCV Id: RCV001957737 ; RCV003475191
• dbSNP Id: rs2115937855

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117559536_117559540del , CM000669.2:g.117559536_117559540del	GRCh38
NC_000007.13:g.117199590_117199594del , CM000669.1:g.117199590_117199594del	GRCh37
NC_000007.12:g.116986826_116986830del	NCBI36
NG_016465.4:g.98753_98757del , LRG_663:g.98753_98757del

Transcript Alleles

HGVS	Amino-acid change
ENST00000647720.2:c.1465_1469del (CFTR)	ENSP00000497673.2:p.Ser489LeufsTer13
ENST00000647978.2:c.*1179_*1183del (CFTR)	ENSP00000497658.1:n.*1179_*1183del
ENST00000649781.2:c.1282_1286del (CFTR)	ENSP00000497203.1:p.Ser428LeufsTer13
ENST00000685018.2:c.1465_1469del (CFTR)	ENSP00000510194.2:p.Ser489LeufsTer13
ENST00000687278.2:c.1465_1469del (CFTR)	ENSP00000509593.2:p.Ser489LeufsTer13
ENST00000699585.1:c.1465_1469del (CFTR)	ENSP00000514456.1:p.Ser489LeufsTer13
ENST00000699596.1:c.1465_1469del (CFTR)	ENSP00000514465.1:p.Ser489LeufsTer13
ENST00000699597.1:c.*23_*27del (CFTR)	ENSP00000514466.1:n.*23_*27del
ENST00000699598.1:c.1465_1469del (CFTR)	ENSP00000514467.1:p.Ser489LeufsTer13
ENST00000699599.1:c.1465_1469del (CFTR)	ENSP00000514468.1:p.Ser489LeufsTer13
ENST00000699600.1:c.1465_1469del (CFTR)	ENSP00000514469.1:p.Ser489LeufsTer13
ENST00000699601.1:c.1465_1469del (CFTR)	ENSP00000514470.1:p.Ser489LeufsTer13
ENST00000699602.1:c.1465_1469del (CFTR)	ENSP00000514471.1:p.Ser489LeufsTer13
ENST00000699604.1:c.*1289_*1293del (CFTR)	ENSP00000514472.1:n.*1289_*1293del
ENST00000699605.1:c.1039_1043del (CFTR)	ENSP00000514473.1:p.Ser347LeufsTer13
ENST00000003084.11:c.1465_1469del (CFTR) MANE Select	ENSP00000003084.6:p.Ser489LeufsTer13
ENST00000647978.1:c.*1179_*1183del (CFTR)	ENSP00000497658.1:n.*1179_*1183del
ENST00000648260.1:c.1282_1286del (CFTR)	ENSP00000497957.1:p.Ser428LeufsTer13
ENST00000649406.1:c.1282_1286del (CFTR)	ENSP00000497965.1:p.Ser428LeufsTer13
ENST00000649781.1:c.1282_1286del (CFTR)	ENSP00000497203.1:p.Ser428LeufsTer13
ENST00000003084.10:c.1465_1469del (CFTR)	ENSP00000003084.6:p.Ser489LeufsTer13
ENST00000426809.5:c.1375_1379del (CFTR)	ENSP00000389119.1:p.Ser459LeufsTer13
NM_000492.3:c.1465_1469del , LRG_663t1:c.1465_1469del (CFTR)	NP_000483.3:p.Ser489LeufsTer13
XM_011515751.1:c.1555_1559del (CFTR)	XP_011514053.1:p.Ser519LeufsTer13
XM_011515752.1:c.1555_1559del (CFTR)	XP_011514054.1:p.Ser519LeufsTer13
XM_011515753.1:c.1222_1226del (CFTR)	XP_011514055.1:p.Ser408LeufsTer13
XM_011515754.1:c.1222_1226del (CFTR)	XP_011514056.1:p.Ser408LeufsTer13
NR_149084.1:n.221+1196_221+1200del (CFTR-AS1)
NM_000492.4:c.1465_1469del (CFTR) MANE Select	NP_000483.3:p.Ser489LeufsTer13