Canonical Allele Identifier: CA1737404782

Gene: CFTR

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117642529A= , CM000669.2:g.117642529A=	GRCh38
NC_000007.13:g.117282583A= , CM000669.1:g.117282583A=	GRCh37
NC_000007.12:g.117069819A=	NCBI36
NG_016465.4:g.181746A= , LRG_663:g.181746A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647720.2:c.*18A=	ENSP00000497673.2:n.*18A=
ENST00000647978.2:c.*3523A=	ENSP00000497658.1:n.*3523A=
ENST00000649781.2:c.3626A=	ENSP00000497203.1:p.Asp1209=
ENST00000685018.2:c.3809A=	ENSP00000510194.2:p.Asp1270=
ENST00000687278.2:c.*462A=	ENSP00000509593.2:n.*462A=
ENST00000699585.1:c.*18A=	ENSP00000514456.1:n.*18A=
ENST00000699598.1:c.3809A=	ENSP00000514467.1:p.Asp1270=
ENST00000699599.1:c.3809A=	ENSP00000514468.1:p.Asp1270=
ENST00000699600.1:c.*470A=	ENSP00000514469.1:n.*470A=
ENST00000699601.1:c.*2184A=	ENSP00000514470.1:n.*2184A=
ENST00000699602.1:c.3803A=	ENSP00000514471.1:p.Asp1268=
ENST00000699604.1:c.*3633A=	ENSP00000514472.1:n.*3633A=
ENST00000699605.1:c.3383A=	ENSP00000514473.1:p.Asp1128=
ENST00000685018.1:c.557A=	ENSP00000510194.1:p.Asp186=
ENST00000687278.1:c.1596A=	ENSP00000509593.1:n.1596A=
ENST00000689011.1:c.391A=
ENST00000003084.11:c.3809A= MANE Select	ENSP00000003084.6:p.Asp1270=
ENST00000647720.1:c.1259A=
ENST00000649781.1:c.3626A=	ENSP00000497203.1:p.Asp1209=
ENST00000003084.10:c.3809A=	ENSP00000003084.6:p.Asp1270=
ENST00000426809.5:c.3719A=	ENSP00000389119.1:p.Asp1240=
NM_000492.3:c.3809A= , LRG_663t1:c.3809A=	NP_000483.3:p.Asp1270=
XM_011515751.1:c.3899A=	XP_011514053.1:p.Asp1300=
XM_011515752.1:c.3899A=	XP_011514054.1:p.Asp1300=
XM_011515753.1:c.3566A=	XP_011514055.1:p.Asp1189=
XM_011515754.1:c.3566A=	XP_011514056.1:p.Asp1189=
NM_000492.4:c.3809A= MANE Select	NP_000483.3:p.Asp1270=