Canonical Allele Identifier: CA1737394408

Gene: CFTR

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117592159G= , CM000669.2:g.117592159G=	GRCh38
NC_000007.13:g.117232213G= , CM000669.1:g.117232213G=	GRCh37
NC_000007.12:g.117019449G=	NCBI36
NG_016465.4:g.131376G= , LRG_663:g.131376G=

Transcript Alleles

HGVS	Amino-acid change
ENST00000647720.2:c.1992G=	ENSP00000497673.2:p.Glu664=
ENST00000647978.2:c.*1706G=	ENSP00000497658.1:n.*1706G=
ENST00000649781.2:c.1809G=	ENSP00000497203.1:p.Glu603=
ENST00000685018.2:c.1992G=	ENSP00000510194.2:p.Glu664=
ENST00000687278.2:c.1992G=	ENSP00000509593.2:p.Glu664=
ENST00000699585.1:c.1992G=	ENSP00000514456.1:p.Glu664=
ENST00000699598.1:c.1992G=	ENSP00000514467.1:p.Glu664=
ENST00000699599.1:c.1992G=	ENSP00000514468.1:p.Glu664=
ENST00000699600.1:c.1992G=	ENSP00000514469.1:p.Glu664=
ENST00000699601.1:c.*292G=	ENSP00000514470.1:n.*292G=
ENST00000699602.1:c.1992G=	ENSP00000514471.1:p.Glu664=
ENST00000699604.1:c.*1816G=	ENSP00000514472.1:n.*1816G=
ENST00000699605.1:c.1566G=	ENSP00000514473.1:p.Glu522=
ENST00000003084.11:c.1992G= MANE Select	ENSP00000003084.6:p.Glu664=
ENST00000647978.1:c.*1706G=	ENSP00000497658.1:n.*1706G=
ENST00000648260.1:c.1402-10667G=	ENSP00000497957.1:n.1402-10667G=
ENST00000649406.1:c.1809G=	ENSP00000497965.1:p.Glu603=
ENST00000649781.1:c.1809G=	ENSP00000497203.1:p.Glu603=
ENST00000003084.10:c.1992G=	ENSP00000003084.6:p.Glu664=
ENST00000426809.5:c.1902G=	ENSP00000389119.1:p.Glu634=
NM_000492.3:c.1992G= , LRG_663t1:c.1992G=	NP_000483.3:p.Glu664=
XM_011515751.1:c.2082G=	XP_011514053.1:p.Glu694=
XM_011515752.1:c.2082G=	XP_011514054.1:p.Glu694=
XM_011515753.1:c.1749G=	XP_011514055.1:p.Glu583=
XM_011515754.1:c.1749G=	XP_011514056.1:p.Glu583=
NM_000492.4:c.1992G= MANE Select	NP_000483.3:p.Glu664=