Canonical Allele Identifier: CA1737422089

Gene: CFTR

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117664803T= , CM000669.2:g.117664803T=	GRCh38
NC_000007.13:g.117304857T= , CM000669.1:g.117304857T=	GRCh37
NC_000007.12:g.117092093T=	NCBI36
NG_016465.4:g.204020T= , LRG_663:g.204020T=

Transcript Alleles

HGVS	Amino-acid change
ENST00000647720.2:c.*288T=	ENSP00000497673.2:n.*288T=
ENST00000647978.2:c.*3793T=	ENSP00000497658.1:n.*3793T=
ENST00000649781.2:c.3896T=	ENSP00000497203.1:p.Val1299=
ENST00000685018.2:c.*292T=	ENSP00000510194.2:n.*292T=
ENST00000687278.2:c.*732T=	ENSP00000509593.2:n.*732T=
ENST00000699585.1:c.*288T=	ENSP00000514456.1:n.*288T=
ENST00000699598.1:c.4079T=	ENSP00000514467.1:p.Val1360=
ENST00000699599.1:c.*292T=	ENSP00000514468.1:n.*292T=
ENST00000699600.1:c.*740T=	ENSP00000514469.1:n.*740T=
ENST00000699601.1:c.*2454T=	ENSP00000514470.1:n.*2454T=
ENST00000699602.1:c.4073T=	ENSP00000514471.1:p.Val1358=
ENST00000699604.1:c.*3903T=	ENSP00000514472.1:n.*3903T=
ENST00000699605.1:c.3653T=	ENSP00000514473.1:p.Val1218=
ENST00000699606.1:n.2247T=
ENST00000685018.1:c.943T=	ENSP00000510194.1:n.943T=
ENST00000687278.1:c.1866T=	ENSP00000509593.1:n.1866T=
ENST00000689011.1:c.661T=
ENST00000003084.11:c.4079T= MANE Select	ENSP00000003084.6:p.Val1360=
ENST00000647720.1:c.1529T=
ENST00000649781.1:c.3896T=	ENSP00000497203.1:p.Val1299=
ENST00000003084.10:c.4079T=	ENSP00000003084.6:p.Val1360=
ENST00000426809.5:c.3989T=	ENSP00000389119.1:p.Val1330=
ENST00000600166.1:c.205T=
NM_000492.3:c.4079T= , LRG_663t1:c.4079T=	NP_000483.3:p.Val1360=
XM_011515751.1:c.4169T=	XP_011514053.1:p.Val1390=
XM_011515752.1:c.4169T=	XP_011514054.1:p.Val1390=
XM_011515753.1:c.3836T=	XP_011514055.1:p.Val1279=
XM_011515754.1:c.3836T=	XP_011514056.1:p.Val1279=
NM_000492.4:c.4079T= MANE Select	NP_000483.3:p.Val1360=