Canonical Allele Identifier: CA918111826

Gene: CFTR CFTR-AS1

Linked Data

• dbSNP Id: rs869189980

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117559592_117559593dup , CM000669.2:g.117559592_117559593dup	GRCh38
NC_000007.13:g.117199646_117199647dup , CM000669.1:g.117199646_117199647dup	GRCh37
NC_000007.12:g.116986882_116986883dup	NCBI36
NG_016465.4:g.98809_98810dup , LRG_663:g.98809_98810dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000647720.2:c.1521_1522dup (CFTR)	ENSP00000497673.2:p.Phe508SerfsTer20
ENST00000647978.2:c.*1235_*1236dup (CFTR)	ENSP00000497658.1:n.*1235_*1236dup
ENST00000649781.2:c.1338_1339dup (CFTR)	ENSP00000497203.1:p.Phe447SerfsTer20
ENST00000685018.2:c.1521_1522dup (CFTR)	ENSP00000510194.2:p.Phe508SerfsTer20
ENST00000687278.2:c.1521_1522dup (CFTR)	ENSP00000509593.2:p.Phe508SerfsTer20
ENST00000699585.1:c.1521_1522dup (CFTR)	ENSP00000514456.1:p.Phe508SerfsTer20
ENST00000699596.1:c.1521_1522dup (CFTR)	ENSP00000514465.1:p.Phe508SerfsTer20
ENST00000699597.1:c.*79_*80dup (CFTR)	ENSP00000514466.1:n.*79_*80dup
ENST00000699598.1:c.1521_1522dup (CFTR)	ENSP00000514467.1:p.Phe508SerfsTer20
ENST00000699599.1:c.1521_1522dup (CFTR)	ENSP00000514468.1:p.Phe508SerfsTer20
ENST00000699600.1:c.1521_1522dup (CFTR)	ENSP00000514469.1:p.Phe508SerfsTer20
ENST00000699601.1:c.1521_1522dup (CFTR)	ENSP00000514470.1:p.Phe508SerfsTer20
ENST00000699602.1:c.1521_1522dup (CFTR)	ENSP00000514471.1:p.Phe508SerfsTer20
ENST00000699604.1:c.*1345_*1346dup (CFTR)	ENSP00000514472.1:n.*1345_*1346dup
ENST00000699605.1:c.1095_1096dup (CFTR)	ENSP00000514473.1:p.Phe366SerfsTer20
ENST00000003084.11:c.1521_1522dup (CFTR) MANE Select	ENSP00000003084.6:p.Phe508SerfsTer20
ENST00000647978.1:c.*1235_*1236dup (CFTR)	ENSP00000497658.1:n.*1235_*1236dup
ENST00000648260.1:c.1338_1339dup (CFTR)	ENSP00000497957.1:p.Phe447SerfsTer20
ENST00000649406.1:c.1338_1339dup (CFTR)	ENSP00000497965.1:p.Phe447SerfsTer20
ENST00000649781.1:c.1338_1339dup (CFTR)	ENSP00000497203.1:p.Phe447SerfsTer20
ENST00000003084.10:c.1521_1522dup (CFTR)	ENSP00000003084.6:p.Phe508SerfsTer20
ENST00000426809.5:c.1431_1432dup (CFTR)	ENSP00000389119.1:p.Phe478SerfsTer20
NM_000492.3:c.1521_1522dup , LRG_663t1:c.1521_1522dup (CFTR)	NP_000483.3:p.Phe508SerfsTer20
XM_011515751.1:c.1611_1612dup (CFTR)	XP_011514053.1:p.Phe538SerfsTer20
XM_011515752.1:c.1611_1612dup (CFTR)	XP_011514054.1:p.Phe538SerfsTer20
XM_011515753.1:c.1278_1279dup (CFTR)	XP_011514055.1:p.Phe427SerfsTer20
XM_011515754.1:c.1278_1279dup (CFTR)	XP_011514056.1:p.Phe427SerfsTer20
NR_149084.1:n.221+1141_221+1142dup (CFTR-AS1)
NM_000492.4:c.1521_1522dup (CFTR) MANE Select	NP_000483.3:p.Phe508SerfsTer20