Canonical Allele Identifier: CA1737398602

Gene: CFTR

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117627526G= , CM000669.2:g.117627526G=	GRCh38
NC_000007.13:g.117267580G= , CM000669.1:g.117267580G=	GRCh37
NC_000007.12:g.117054816G=	NCBI36
NG_016465.4:g.166743G= , LRG_663:g.166743G=

Transcript Alleles

HGVS	Amino-acid change
ENST00000647720.2:c.3473G=	ENSP00000497673.2:p.Arg1158=
ENST00000647978.2:c.*3187G=	ENSP00000497658.1:n.*3187G=
ENST00000649781.2:c.3290G=	ENSP00000497203.1:p.Arg1097=
ENST00000685018.2:c.3473G=	ENSP00000510194.2:p.Arg1158=
ENST00000687278.2:c.*126G=	ENSP00000509593.2:n.*126G=
ENST00000699585.1:c.3473G=	ENSP00000514456.1:p.Arg1158=
ENST00000699598.1:c.3473G=	ENSP00000514467.1:p.Arg1158=
ENST00000699599.1:c.3473G=	ENSP00000514468.1:p.Arg1158=
ENST00000699600.1:c.*134G=	ENSP00000514469.1:n.*134G=
ENST00000699601.1:c.*1848G=	ENSP00000514470.1:n.*1848G=
ENST00000699602.1:c.3467G=	ENSP00000514471.1:p.Arg1156=
ENST00000699604.1:c.*3297G=	ENSP00000514472.1:n.*3297G=
ENST00000699605.1:c.3047G=	ENSP00000514473.1:p.Arg1016=
ENST00000685018.1:c.221G=	ENSP00000510194.1:p.Arg74=
ENST00000687278.1:c.1260G=	ENSP00000509593.1:n.1260G=
ENST00000689011.1:c.55G=
ENST00000003084.11:c.3473G= MANE Select	ENSP00000003084.6:p.Arg1158=
ENST00000647720.1:c.1123G=
ENST00000648260.1:c.2255G=	ENSP00000497957.1:p.Arg752=
ENST00000649406.1:c.3290G=	ENSP00000497965.1:p.Arg1097=
ENST00000649781.1:c.3290G=	ENSP00000497203.1:p.Arg1097=
ENST00000003084.10:c.3473G=	ENSP00000003084.6:p.Arg1158=
ENST00000426809.5:c.3383G=	ENSP00000389119.1:p.Arg1128=
ENST00000468795.1:c.298G=
NM_000492.3:c.3473G= , LRG_663t1:c.3473G=	NP_000483.3:p.Arg1158=
XM_011515751.1:c.3563G=	XP_011514053.1:p.Arg1188=
XM_011515752.1:c.3563G=	XP_011514054.1:p.Arg1188=
XM_011515753.1:c.3230G=	XP_011514055.1:p.Arg1077=
XM_011515754.1:c.3230G=	XP_011514056.1:p.Arg1077=
NM_000492.4:c.3473G= MANE Select	NP_000483.3:p.Arg1158=