Canonical Allele Identifier: CA1737421852

Gene: CFTR

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117664742G= , CM000669.2:g.117664742G=	GRCh38
NC_000007.13:g.117304796G= , CM000669.1:g.117304796G=	GRCh37
NC_000007.12:g.117092032G=	NCBI36
NG_016465.4:g.203959G= , LRG_663:g.203959G=

Transcript Alleles

HGVS	Amino-acid change
ENST00000647720.2:c.*227G=	ENSP00000497673.2:n.*227G=
ENST00000647978.2:c.*3732G=	ENSP00000497658.1:n.*3732G=
ENST00000649781.2:c.3835G=	ENSP00000497203.1:p.Val1279=
ENST00000685018.2:c.*231G=	ENSP00000510194.2:n.*231G=
ENST00000687278.2:c.*671G=	ENSP00000509593.2:n.*671G=
ENST00000699585.1:c.*227G=	ENSP00000514456.1:n.*227G=
ENST00000699598.1:c.4018G=	ENSP00000514467.1:p.Val1340=
ENST00000699599.1:c.*231G=	ENSP00000514468.1:n.*231G=
ENST00000699600.1:c.*679G=	ENSP00000514469.1:n.*679G=
ENST00000699601.1:c.*2393G=	ENSP00000514470.1:n.*2393G=
ENST00000699602.1:c.4012G=	ENSP00000514471.1:p.Val1338=
ENST00000699604.1:c.*3842G=	ENSP00000514472.1:n.*3842G=
ENST00000699605.1:c.3592G=	ENSP00000514473.1:p.Val1198=
ENST00000699606.1:n.2186G=
ENST00000685018.1:c.882G=	ENSP00000510194.1:n.882G=
ENST00000687278.1:c.1805G=	ENSP00000509593.1:n.1805G=
ENST00000689011.1:c.600G=
ENST00000003084.11:c.4018G= MANE Select	ENSP00000003084.6:p.Val1340=
ENST00000647720.1:c.1468G=
ENST00000649781.1:c.3835G=	ENSP00000497203.1:p.Val1279=
ENST00000003084.10:c.4018G=	ENSP00000003084.6:p.Val1340=
ENST00000426809.5:c.3928G=	ENSP00000389119.1:p.Val1310=
ENST00000600166.1:c.144G=
NM_000492.3:c.4018G= , LRG_663t1:c.4018G=	NP_000483.3:p.Val1340=
XM_011515751.1:c.4108G=	XP_011514053.1:p.Val1370=
XM_011515752.1:c.4108G=	XP_011514054.1:p.Val1370=
XM_011515753.1:c.3775G=	XP_011514055.1:p.Val1259=
XM_011515754.1:c.3775G=	XP_011514056.1:p.Val1259=
NM_000492.4:c.4018G= MANE Select	NP_000483.3:p.Val1340=