Canonical Allele Identifier: CA1737422087

Gene: CFTR

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117664802G= , CM000669.2:g.117664802G=	GRCh38
NC_000007.13:g.117304856G= , CM000669.1:g.117304856G=	GRCh37
NC_000007.12:g.117092092G=	NCBI36
NG_016465.4:g.204019G= , LRG_663:g.204019G=

Transcript Alleles

HGVS	Amino-acid change
ENST00000647720.2:c.*287G=	ENSP00000497673.2:n.*287G=
ENST00000647978.2:c.*3792G=	ENSP00000497658.1:n.*3792G=
ENST00000649781.2:c.3895G=	ENSP00000497203.1:p.Val1299=
ENST00000685018.2:c.*291G=	ENSP00000510194.2:n.*291G=
ENST00000687278.2:c.*731G=	ENSP00000509593.2:n.*731G=
ENST00000699585.1:c.*287G=	ENSP00000514456.1:n.*287G=
ENST00000699598.1:c.4078G=	ENSP00000514467.1:p.Val1360=
ENST00000699599.1:c.*291G=	ENSP00000514468.1:n.*291G=
ENST00000699600.1:c.*739G=	ENSP00000514469.1:n.*739G=
ENST00000699601.1:c.*2453G=	ENSP00000514470.1:n.*2453G=
ENST00000699602.1:c.4072G=	ENSP00000514471.1:p.Val1358=
ENST00000699604.1:c.*3902G=	ENSP00000514472.1:n.*3902G=
ENST00000699605.1:c.3652G=	ENSP00000514473.1:p.Val1218=
ENST00000699606.1:n.2246G=
ENST00000685018.1:c.942G=	ENSP00000510194.1:n.942G=
ENST00000687278.1:c.1865G=	ENSP00000509593.1:n.1865G=
ENST00000689011.1:c.660G=
ENST00000003084.11:c.4078G= MANE Select	ENSP00000003084.6:p.Val1360=
ENST00000647720.1:c.1528G=
ENST00000649781.1:c.3895G=	ENSP00000497203.1:p.Val1299=
ENST00000003084.10:c.4078G=	ENSP00000003084.6:p.Val1360=
ENST00000426809.5:c.3988G=	ENSP00000389119.1:p.Val1330=
ENST00000600166.1:c.204G=
NM_000492.3:c.4078G= , LRG_663t1:c.4078G=	NP_000483.3:p.Val1360=
XM_011515751.1:c.4168G=	XP_011514053.1:p.Val1390=
XM_011515752.1:c.4168G=	XP_011514054.1:p.Val1390=
XM_011515753.1:c.3835G=	XP_011514055.1:p.Val1279=
XM_011515754.1:c.3835G=	XP_011514056.1:p.Val1279=
NM_000492.4:c.4078G= MANE Select	NP_000483.3:p.Val1360=