Canonical Allele Identifier: CA1737394013

Gene: CFTR

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117592019A= , CM000669.2:g.117592019A=	GRCh38
NC_000007.13:g.117232073A= , CM000669.1:g.117232073A=	GRCh37
NC_000007.12:g.117019309A=	NCBI36
NG_016465.4:g.131236A= , LRG_663:g.131236A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647720.2:c.1852A=	ENSP00000497673.2:p.Ile618=
ENST00000647978.2:c.*1566A=	ENSP00000497658.1:n.*1566A=
ENST00000649781.2:c.1669A=	ENSP00000497203.1:p.Ile557=
ENST00000685018.2:c.1852A=	ENSP00000510194.2:p.Ile618=
ENST00000687278.2:c.1852A=	ENSP00000509593.2:p.Ile618=
ENST00000699585.1:c.1852A=	ENSP00000514456.1:p.Ile618=
ENST00000699598.1:c.1852A=	ENSP00000514467.1:p.Ile618=
ENST00000699599.1:c.1852A=	ENSP00000514468.1:p.Ile618=
ENST00000699600.1:c.1852A=	ENSP00000514469.1:p.Ile618=
ENST00000699601.1:c.*152A=	ENSP00000514470.1:n.*152A=
ENST00000699602.1:c.1852A=	ENSP00000514471.1:p.Ile618=
ENST00000699604.1:c.*1676A=	ENSP00000514472.1:n.*1676A=
ENST00000699605.1:c.1426A=	ENSP00000514473.1:p.Ile476=
ENST00000003084.11:c.1852A= MANE Select	ENSP00000003084.6:p.Ile618=
ENST00000647978.1:c.*1566A=	ENSP00000497658.1:n.*1566A=
ENST00000648260.1:c.1402-10807A=	ENSP00000497957.1:n.1402-10807A=
ENST00000649406.1:c.1669A=	ENSP00000497965.1:p.Ile557=
ENST00000649781.1:c.1669A=	ENSP00000497203.1:p.Ile557=
ENST00000003084.10:c.1852A=	ENSP00000003084.6:p.Ile618=
ENST00000426809.5:c.1762A=	ENSP00000389119.1:p.Ile588=
NM_000492.3:c.1852A= , LRG_663t1:c.1852A=	NP_000483.3:p.Ile618=
XM_011515751.1:c.1942A=	XP_011514053.1:p.Ile648=
XM_011515752.1:c.1942A=	XP_011514054.1:p.Ile648=
XM_011515753.1:c.1609A=	XP_011514055.1:p.Ile537=
XM_011515754.1:c.1609A=	XP_011514056.1:p.Ile537=
NM_000492.4:c.1852A= MANE Select	NP_000483.3:p.Ile618=