Canonical Allele Identifier: CA1737395769

Gene: CFTR

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117592646G= , CM000669.2:g.117592646G=	GRCh38
NC_000007.13:g.117232700G= , CM000669.1:g.117232700G=	GRCh37
NC_000007.12:g.117019936G=	NCBI36
NG_016465.4:g.131863G= , LRG_663:g.131863G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647720.2:c.2479G=	ENSP00000497673.2:p.Glu827=
ENST00000647978.2:c.*2193G=	ENSP00000497658.1:n.*2193G=
ENST00000649781.2:c.2296G=	ENSP00000497203.1:p.Glu766=
ENST00000685018.2:c.2479G=	ENSP00000510194.2:p.Glu827=
ENST00000687278.2:c.2479G=	ENSP00000509593.2:p.Glu827=
ENST00000699585.1:c.2479G=	ENSP00000514456.1:p.Glu827=
ENST00000699598.1:c.2479G=	ENSP00000514467.1:p.Glu827=
ENST00000699599.1:c.2479G=	ENSP00000514468.1:p.Glu827=
ENST00000699600.1:c.2479G=	ENSP00000514469.1:p.Glu827=
ENST00000699601.1:c.*779G=	ENSP00000514470.1:n.*779G=
ENST00000699602.1:c.2479G=	ENSP00000514471.1:p.Glu827=
ENST00000699604.1:c.*2303G=	ENSP00000514472.1:n.*2303G=
ENST00000699605.1:c.2053G=	ENSP00000514473.1:p.Glu685=
ENST00000687278.1:c.70G=	ENSP00000509593.1:p.Glu24=
ENST00000003084.11:c.2479G= MANE Select	ENSP00000003084.6:p.Glu827=
ENST00000647720.1:c.129G=
ENST00000647978.1:c.*2193G=	ENSP00000497658.1:n.*2193G=
ENST00000648260.1:c.1402-10180G=	ENSP00000497957.1:n.1402-10180G=
ENST00000649406.1:c.2296G=	ENSP00000497965.1:p.Glu766=
ENST00000649781.1:c.2296G=	ENSP00000497203.1:p.Glu766=
ENST00000003084.10:c.2479G=	ENSP00000003084.6:p.Glu827=
ENST00000426809.5:c.2389G=	ENSP00000389119.1:p.Glu797=
NM_000492.3:c.2479G= , LRG_663t1:c.2479G=	NP_000483.3:p.Glu827=
XM_011515751.1:c.2569G=	XP_011514053.1:p.Glu857=
XM_011515752.1:c.2569G=	XP_011514054.1:p.Glu857=
XM_011515753.1:c.2236G=	XP_011514055.1:p.Glu746=
XM_011515754.1:c.2236G=	XP_011514056.1:p.Glu746=
NM_000492.4:c.2479G= MANE Select	NP_000483.3:p.Glu827=