Canonical Allele Identifier: CA1737411290

Gene: CFTR

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117652915G= , CM000669.2:g.117652915G=	GRCh38
NC_000007.13:g.117292969G= , CM000669.1:g.117292969G=	GRCh37
NC_000007.12:g.117080205G=	NCBI36
NG_016465.4:g.192132G= , LRG_663:g.192132G=

Transcript Alleles

HGVS	Amino-acid Change
NM_000492.4:c.3947G= MANE Select	NP_000483.3:p.Trp1316=
ENST00000003084.11:c.3947G= MANE Select	ENSP00000003084.6:p.Trp1316=
NM_000492.3:c.3947G= , LRG_663t1:c.3947G=	NP_000483.3:p.Trp1316=
ENST00000003084.10:c.3947G=	ENSP00000003084.6:p.Trp1316=
ENST00000426809.5:c.3857G=	ENSP00000389119.1:p.Trp1286=
ENST00000600166.1:c.73G=
ENST00000647720.1:c.1397G=
ENST00000647720.2:c.*156G=	ENSP00000497673.2:n.*156G=
ENST00000647978.2:c.*3661G=	ENSP00000497658.1:n.*3661G=
ENST00000649781.1:c.3764G=	ENSP00000497203.1:p.Trp1255=
ENST00000649781.2:c.3764G=	ENSP00000497203.1:p.Trp1255=
ENST00000685018.1:c.811G=	ENSP00000510194.1:n.811G=
ENST00000685018.2:c.*160G=	ENSP00000510194.2:n.*160G=
ENST00000687278.1:c.1734G=	ENSP00000509593.1:n.1734G=
ENST00000687278.2:c.*600G=	ENSP00000509593.2:n.*600G=
ENST00000689011.1:c.529G=
ENST00000699585.1:c.*156G=	ENSP00000514456.1:n.*156G=
ENST00000699598.1:c.3947G=	ENSP00000514467.1:p.Trp1316=
ENST00000699599.1:c.*160G=	ENSP00000514468.1:n.*160G=
ENST00000699600.1:c.*608G=	ENSP00000514469.1:n.*608G=
ENST00000699601.1:c.*2322G=	ENSP00000514470.1:n.*2322G=
ENST00000699602.1:c.3941G=	ENSP00000514471.1:p.Trp1314=
ENST00000699604.1:c.*3771G=	ENSP00000514472.1:n.*3771G=
ENST00000699605.1:c.3521G=	ENSP00000514473.1:p.Trp1174=
ENST00000699606.1:n.2115G=
XM_011515751.1:c.4037G=	XP_011514053.1:p.Trp1346=
XM_011515752.1:c.4037G=	XP_011514054.1:p.Trp1346=
XM_011515753.1:c.3704G=	XP_011514055.1:p.Trp1235=
XM_011515754.1:c.3704G=	XP_011514056.1:p.Trp1235=