Canonical Allele Identifier: CA1737398626

Gene: CFTR

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117627567G= , CM000669.2:g.117627567G=	GRCh38
NC_000007.13:g.117267621G= , CM000669.1:g.117267621G=	GRCh37
NC_000007.12:g.117054857G=	NCBI36
NG_016465.4:g.166784G= , LRG_663:g.166784G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647720.2:c.3514G=	ENSP00000497673.2:p.Glu1172=
ENST00000647978.2:c.*3228G=	ENSP00000497658.1:n.*3228G=
ENST00000649781.2:c.3331G=	ENSP00000497203.1:p.Glu1111=
ENST00000685018.2:c.3514G=	ENSP00000510194.2:p.Glu1172=
ENST00000687278.2:c.*167G=	ENSP00000509593.2:n.*167G=
ENST00000699585.1:c.3514G=	ENSP00000514456.1:p.Glu1172=
ENST00000699598.1:c.3514G=	ENSP00000514467.1:p.Glu1172=
ENST00000699599.1:c.3514G=	ENSP00000514468.1:p.Glu1172=
ENST00000699600.1:c.*175G=	ENSP00000514469.1:n.*175G=
ENST00000699601.1:c.*1889G=	ENSP00000514470.1:n.*1889G=
ENST00000699602.1:c.3508G=	ENSP00000514471.1:p.Glu1170=
ENST00000699604.1:c.*3338G=	ENSP00000514472.1:n.*3338G=
ENST00000699605.1:c.3088G=	ENSP00000514473.1:p.Glu1030=
ENST00000685018.1:c.262G=	ENSP00000510194.1:p.Glu88=
ENST00000687278.1:c.1301G=	ENSP00000509593.1:n.1301G=
ENST00000689011.1:c.96G=
ENST00000003084.11:c.3514G= MANE Select	ENSP00000003084.6:p.Glu1172=
ENST00000647720.1:c.1164G=
ENST00000648260.1:c.2296G=	ENSP00000497957.1:p.Glu766=
ENST00000649406.1:c.3331G=	ENSP00000497965.1:p.Glu1111=
ENST00000649781.1:c.3331G=	ENSP00000497203.1:p.Glu1111=
ENST00000003084.10:c.3514G=	ENSP00000003084.6:p.Glu1172=
ENST00000426809.5:c.3424G=	ENSP00000389119.1:p.Glu1142=
ENST00000468795.1:c.339G=
NM_000492.3:c.3514G= , LRG_663t1:c.3514G=	NP_000483.3:p.Glu1172=
XM_011515751.1:c.3604G=	XP_011514053.1:p.Glu1202=
XM_011515752.1:c.3604G=	XP_011514054.1:p.Glu1202=
XM_011515753.1:c.3271G=	XP_011514055.1:p.Glu1091=
XM_011515754.1:c.3271G=	XP_011514056.1:p.Glu1091=
NM_000492.4:c.3514G= MANE Select	NP_000483.3:p.Glu1172=