Canonical Allele Identifier: CA1737384909

Gene: CFTR CFTR-AS1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117559650G= , CM000669.2:g.117559650G=	GRCh38
NC_000007.13:g.117199704G= , CM000669.1:g.117199704G=	GRCh37
NC_000007.12:g.116986940G=	NCBI36
NG_016465.4:g.98867G= , LRG_663:g.98867G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647720.2:c.1579G= (CFTR)	ENSP00000497673.2:p.Glu527=
ENST00000647978.2:c.*1293G= (CFTR)	ENSP00000497658.1:n.*1293G=
ENST00000649781.2:c.1396G= (CFTR)	ENSP00000497203.1:p.Glu466=
ENST00000685018.2:c.1579G= (CFTR)	ENSP00000510194.2:p.Glu527=
ENST00000687278.2:c.1579G= (CFTR)	ENSP00000509593.2:p.Glu527=
ENST00000699585.1:c.1579G= (CFTR)	ENSP00000514456.1:p.Glu527=
ENST00000699596.1:c.1579G= (CFTR)	ENSP00000514465.1:p.Glu527=
ENST00000699597.1:c.*137G= (CFTR)	ENSP00000514466.1:n.*137G=
ENST00000699598.1:c.1579G= (CFTR)	ENSP00000514467.1:p.Glu527=
ENST00000699599.1:c.1579G= (CFTR)	ENSP00000514468.1:p.Glu527=
ENST00000699600.1:c.1579G= (CFTR)	ENSP00000514469.1:p.Glu527=
ENST00000699601.1:c.1579G= (CFTR)	ENSP00000514470.1:p.Glu527=
ENST00000699602.1:c.1579G= (CFTR)	ENSP00000514471.1:p.Glu527=
ENST00000699604.1:c.*1403G= (CFTR)	ENSP00000514472.1:n.*1403G=
ENST00000699605.1:c.1153G= (CFTR)	ENSP00000514473.1:p.Glu385=
ENST00000003084.11:c.1579G= (CFTR) MANE Select	ENSP00000003084.6:p.Glu527=
ENST00000647978.1:c.*1293G= (CFTR)	ENSP00000497658.1:n.*1293G=
ENST00000648260.1:c.1396G= (CFTR)	ENSP00000497957.1:p.Glu466=
ENST00000649406.1:c.1396G= (CFTR)	ENSP00000497965.1:p.Glu466=
ENST00000649781.1:c.1396G= (CFTR)	ENSP00000497203.1:p.Glu466=
ENST00000003084.10:c.1579G= (CFTR)	ENSP00000003084.6:p.Glu527=
ENST00000426809.5:c.1489G= (CFTR)	ENSP00000389119.1:p.Glu497=
ENST00000472848.1:n.13G= (CFTR)
NM_000492.3:c.1579G= , LRG_663t1:c.1579G= (CFTR)	NP_000483.3:p.Glu527=
XM_011515751.1:c.1669G= (CFTR)	XP_011514053.1:p.Glu557=
XM_011515752.1:c.1669G= (CFTR)	XP_011514054.1:p.Glu557=
XM_011515753.1:c.1336G= (CFTR)	XP_011514055.1:p.Glu446=
XM_011515754.1:c.1336G= (CFTR)	XP_011514056.1:p.Glu446=
NR_149084.1:n.221+1083C= (CFTR-AS1)
NM_000492.4:c.1579G= (CFTR) MANE Select	NP_000483.3:p.Glu527=