Canonical Allele Identifier: CA1737422804

Gene: CFTR

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117665478A= , CM000669.2:g.117665478A=	GRCh38
NC_000007.13:g.117305532A= , CM000669.1:g.117305532A=	GRCh37
NC_000007.12:g.117092768A=	NCBI36
NG_016465.4:g.204695A= , LRG_663:g.204695A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647720.2:c.*365A=	ENSP00000497673.2:n.*365A=
ENST00000647978.2:c.*3870A=	ENSP00000497658.1:n.*3870A=
ENST00000649781.2:c.3973A=	ENSP00000497203.1:p.Arg1325=
ENST00000685018.2:c.*369A=	ENSP00000510194.2:n.*369A=
ENST00000687278.2:c.*809A=	ENSP00000509593.2:n.*809A=
ENST00000699585.1:c.*365A=	ENSP00000514456.1:n.*365A=
ENST00000699598.1:c.4156A=	ENSP00000514467.1:p.Arg1386=
ENST00000699599.1:c.*369A=	ENSP00000514468.1:n.*369A=
ENST00000699600.1:c.*817A=	ENSP00000514469.1:n.*817A=
ENST00000699601.1:c.*2531A=	ENSP00000514470.1:n.*2531A=
ENST00000699602.1:c.4150A=	ENSP00000514471.1:p.Arg1384=
ENST00000699604.1:c.*3980A=	ENSP00000514472.1:n.*3980A=
ENST00000699605.1:c.3730A=	ENSP00000514473.1:p.Arg1244=
ENST00000699606.1:n.2324A=
ENST00000685018.1:c.1020A=	ENSP00000510194.1:n.1020A=
ENST00000687278.1:c.1943A=	ENSP00000509593.1:n.1943A=
ENST00000689011.1:c.738A=
ENST00000003084.11:c.4156A= MANE Select	ENSP00000003084.6:p.Arg1386=
ENST00000647720.1:c.1606A=
ENST00000649781.1:c.3973A=	ENSP00000497203.1:p.Arg1325=
ENST00000003084.10:c.4156A=	ENSP00000003084.6:p.Arg1386=
ENST00000426809.5:c.4066A=	ENSP00000389119.1:p.Arg1356=
ENST00000600166.1:c.282A=
NM_000492.3:c.4156A= , LRG_663t1:c.4156A=	NP_000483.3:p.Arg1386=
XM_011515751.1:c.4246A=	XP_011514053.1:p.Arg1416=
XM_011515752.1:c.4246A=	XP_011514054.1:p.Arg1416=
XM_011515753.1:c.3913A=	XP_011514055.1:p.Arg1305=
XM_011515754.1:c.3913A=	XP_011514056.1:p.Arg1305=
NM_000492.4:c.4156A= MANE Select	NP_000483.3:p.Arg1386=