Canonical Allele Identifier: CA1737395219

Gene: CFTR

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117592461G= , CM000669.2:g.117592461G=	GRCh38
NC_000007.13:g.117232515G= , CM000669.1:g.117232515G=	GRCh37
NC_000007.12:g.117019751G=	NCBI36
NG_016465.4:g.131678G= , LRG_663:g.131678G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647720.2:c.2294G=	ENSP00000497673.2:p.Arg765=
ENST00000647978.2:c.*2008G=	ENSP00000497658.1:n.*2008G=
ENST00000649781.2:c.2111G=	ENSP00000497203.1:p.Arg704=
ENST00000685018.2:c.2294G=	ENSP00000510194.2:p.Arg765=
ENST00000687278.2:c.2294G=	ENSP00000509593.2:p.Arg765=
ENST00000699585.1:c.2294G=	ENSP00000514456.1:p.Arg765=
ENST00000699598.1:c.2294G=	ENSP00000514467.1:p.Arg765=
ENST00000699599.1:c.2294G=	ENSP00000514468.1:p.Arg765=
ENST00000699600.1:c.2294G=	ENSP00000514469.1:p.Arg765=
ENST00000699601.1:c.*594G=	ENSP00000514470.1:n.*594G=
ENST00000699602.1:c.2294G=	ENSP00000514471.1:p.Arg765=
ENST00000699604.1:c.*2118G=	ENSP00000514472.1:n.*2118G=
ENST00000699605.1:c.1868G=	ENSP00000514473.1:p.Arg623=
ENST00000003084.11:c.2294G= MANE Select	ENSP00000003084.6:p.Arg765=
ENST00000647978.1:c.*2008G=	ENSP00000497658.1:n.*2008G=
ENST00000648260.1:c.1402-10365G=	ENSP00000497957.1:n.1402-10365G=
ENST00000649406.1:c.2111G=	ENSP00000497965.1:p.Arg704=
ENST00000649781.1:c.2111G=	ENSP00000497203.1:p.Arg704=
ENST00000003084.10:c.2294G=	ENSP00000003084.6:p.Arg765=
ENST00000426809.5:c.2204G=	ENSP00000389119.1:p.Arg735=
NM_000492.3:c.2294G= , LRG_663t1:c.2294G=	NP_000483.3:p.Arg765=
XM_011515751.1:c.2384G=	XP_011514053.1:p.Arg795=
XM_011515752.1:c.2384G=	XP_011514054.1:p.Arg795=
XM_011515753.1:c.2051G=	XP_011514055.1:p.Arg684=
XM_011515754.1:c.2051G=	XP_011514056.1:p.Arg684=
NM_000492.4:c.2294G= MANE Select	NP_000483.3:p.Arg765=