Canonical Allele Identifier: CA1737385028

Gene: CFTR CFTR-AS1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117559697C= , CM000669.2:g.117559697C=	GRCh38
NC_000007.13:g.117199751C= , CM000669.1:g.117199751C=	GRCh37
NC_000007.12:g.116986987C=	NCBI36
NG_016465.4:g.98914C= , LRG_663:g.98914C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647720.2:c.1584+42C= (CFTR)	ENSP00000497673.2:n.1584+42C=
ENST00000647978.2:c.*1298+42C= (CFTR)	ENSP00000497658.1:n.*1298+42C=
ENST00000649781.2:c.1401+42C= (CFTR)	ENSP00000497203.1:n.1401+42C=
ENST00000685018.2:c.1584+42C= (CFTR)	ENSP00000510194.2:n.1584+42C=
ENST00000687278.2:c.1584+42C= (CFTR)	ENSP00000509593.2:n.1584+42C=
ENST00000699585.1:c.1584+42C= (CFTR)	ENSP00000514456.1:n.1584+42C=
ENST00000699596.1:c.*15C= (CFTR)	ENSP00000514465.1:n.*15C=
ENST00000699597.1:c.*184C= (CFTR)	ENSP00000514466.1:n.*184C=
ENST00000699598.1:c.1584+42C= (CFTR)	ENSP00000514467.1:n.1584+42C=
ENST00000699599.1:c.1584+42C= (CFTR)	ENSP00000514468.1:n.1584+42C=
ENST00000699600.1:c.1584+42C= (CFTR)	ENSP00000514469.1:n.1584+42C=
ENST00000699601.1:c.1584+42C= (CFTR)	ENSP00000514470.1:n.1584+42C=
ENST00000699602.1:c.1584+42C= (CFTR)	ENSP00000514471.1:n.1584+42C=
ENST00000699604.1:c.*1408+42C= (CFTR)	ENSP00000514472.1:n.*1408+42C=
ENST00000699605.1:c.1158+42C= (CFTR)	ENSP00000514473.1:n.1158+42C=
ENST00000003084.11:c.1584+42C= (CFTR) MANE Select	ENSP00000003084.6:n.1584+42C=
ENST00000647978.1:c.*1298+42C= (CFTR)	ENSP00000497658.1:n.*1298+42C=
ENST00000648260.1:c.1401+42C= (CFTR)	ENSP00000497957.1:n.1401+42C=
ENST00000649406.1:c.1401+42C= (CFTR)	ENSP00000497965.1:n.1401+42C=
ENST00000649781.1:c.1401+42C= (CFTR)	ENSP00000497203.1:n.1401+42C=
ENST00000003084.10:c.1584+42C= (CFTR)	ENSP00000003084.6:n.1584+42C=
ENST00000426809.5:c.1494+42C= (CFTR)	ENSP00000389119.1:n.1494+42C=
ENST00000472848.1:n.18+42C= (CFTR)
NM_000492.3:c.1584+42C= , LRG_663t1:c.1584+42C= (CFTR)	NP_000483.3:n.1584+42C=
XM_011515751.1:c.1674+42C= (CFTR)	XP_011514053.1:n.1674+42C=
XM_011515752.1:c.1674+42C= (CFTR)	XP_011514054.1:n.1674+42C=
XM_011515753.1:c.1341+42C= (CFTR)	XP_011514055.1:n.1341+42C=
XM_011515754.1:c.1341+42C= (CFTR)	XP_011514056.1:n.1341+42C=
NR_149084.1:n.221+1036G= (CFTR-AS1)
NM_000492.4:c.1584+42C= (CFTR) MANE Select	NP_000483.3:n.1584+42C=