Canonical Allele Identifier: CA1737404791

Gene: CFTR

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117642549A= , CM000669.2:g.117642549A=	GRCh38
NC_000007.13:g.117282603A= , CM000669.1:g.117282603A=	GRCh37
NC_000007.12:g.117069839A=	NCBI36
NG_016465.4:g.181766A= , LRG_663:g.181766A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647720.2:c.*38A=	ENSP00000497673.2:n.*38A=
ENST00000647978.2:c.*3543A=	ENSP00000497658.1:n.*3543A=
ENST00000649781.2:c.3646A=	ENSP00000497203.1:p.Ile1216=
ENST00000685018.2:c.3829A=	ENSP00000510194.2:p.Ile1277=
ENST00000687278.2:c.*482A=	ENSP00000509593.2:n.*482A=
ENST00000699585.1:c.*38A=	ENSP00000514456.1:n.*38A=
ENST00000699598.1:c.3829A=	ENSP00000514467.1:p.Ile1277=
ENST00000699599.1:c.3829A=	ENSP00000514468.1:p.Ile1277=
ENST00000699600.1:c.*490A=	ENSP00000514469.1:n.*490A=
ENST00000699601.1:c.*2204A=	ENSP00000514470.1:n.*2204A=
ENST00000699602.1:c.3823A=	ENSP00000514471.1:p.Ile1275=
ENST00000699604.1:c.*3653A=	ENSP00000514472.1:n.*3653A=
ENST00000699605.1:c.3403A=	ENSP00000514473.1:p.Ile1135=
ENST00000685018.1:c.577A=	ENSP00000510194.1:p.Ile193=
ENST00000687278.1:c.1616A=	ENSP00000509593.1:n.1616A=
ENST00000689011.1:c.411A=
ENST00000003084.11:c.3829A= MANE Select	ENSP00000003084.6:p.Ile1277=
ENST00000647720.1:c.1279A=
ENST00000649781.1:c.3646A=	ENSP00000497203.1:p.Ile1216=
ENST00000003084.10:c.3829A=	ENSP00000003084.6:p.Ile1277=
ENST00000426809.5:c.3739A=	ENSP00000389119.1:p.Ile1247=
NM_000492.3:c.3829A= , LRG_663t1:c.3829A=	NP_000483.3:p.Ile1277=
XM_011515751.1:c.3919A=	XP_011514053.1:p.Ile1307=
XM_011515752.1:c.3919A=	XP_011514054.1:p.Ile1307=
XM_011515753.1:c.3586A=	XP_011514055.1:p.Ile1196=
XM_011515754.1:c.3586A=	XP_011514056.1:p.Ile1196=
NM_000492.4:c.3829A= MANE Select	NP_000483.3:p.Ile1277=