Canonical Allele Identifier: CA1737422182

Gene: CFTR

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117664835G= , CM000669.2:g.117664835G=	GRCh38
NC_000007.13:g.117304889G= , CM000669.1:g.117304889G=	GRCh37
NC_000007.12:g.117092125G=	NCBI36
NG_016465.4:g.204052G= , LRG_663:g.204052G=

Transcript Alleles

HGVS	Amino-acid Change
NM_000492.4:c.4111G= MANE Select	NP_000483.3:p.Glu1371=
ENST00000003084.11:c.4111G= MANE Select	ENSP00000003084.6:p.Glu1371=
NM_000492.3:c.4111G= , LRG_663t1:c.4111G=	NP_000483.3:p.Glu1371=
ENST00000003084.10:c.4111G=	ENSP00000003084.6:p.Glu1371=
ENST00000426809.5:c.4021G=	ENSP00000389119.1:p.Glu1341=
ENST00000600166.1:c.237G=
ENST00000647720.1:c.1561G=
ENST00000647720.2:c.*320G=	ENSP00000497673.2:n.*320G=
ENST00000647978.2:c.*3825G=	ENSP00000497658.1:n.*3825G=
ENST00000649781.1:c.3928G=	ENSP00000497203.1:p.Glu1310=
ENST00000649781.2:c.3928G=	ENSP00000497203.1:p.Glu1310=
ENST00000685018.1:c.975G=	ENSP00000510194.1:n.975G=
ENST00000685018.2:c.*324G=	ENSP00000510194.2:n.*324G=
ENST00000687278.1:c.1898G=	ENSP00000509593.1:n.1898G=
ENST00000687278.2:c.*764G=	ENSP00000509593.2:n.*764G=
ENST00000689011.1:c.693G=
ENST00000699585.1:c.*320G=	ENSP00000514456.1:n.*320G=
ENST00000699598.1:c.4111G=	ENSP00000514467.1:p.Glu1371=
ENST00000699599.1:c.*324G=	ENSP00000514468.1:n.*324G=
ENST00000699600.1:c.*772G=	ENSP00000514469.1:n.*772G=
ENST00000699601.1:c.*2486G=	ENSP00000514470.1:n.*2486G=
ENST00000699602.1:c.4105G=	ENSP00000514471.1:p.Glu1369=
ENST00000699604.1:c.*3935G=	ENSP00000514472.1:n.*3935G=
ENST00000699605.1:c.3685G=	ENSP00000514473.1:p.Glu1229=
ENST00000699606.1:n.2279G=
XM_011515751.1:c.4201G=	XP_011514053.1:p.Glu1401=
XM_011515752.1:c.4201G=	XP_011514054.1:p.Glu1401=
XM_011515753.1:c.3868G=	XP_011514055.1:p.Glu1290=
XM_011515754.1:c.3868G=	XP_011514056.1:p.Glu1290=