Canonical Allele Identifier: CA1737404789

Gene: CFTR

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117642542G= , CM000669.2:g.117642542G=	GRCh38
NC_000007.13:g.117282596G= , CM000669.1:g.117282596G=	GRCh37
NC_000007.12:g.117069832G=	NCBI36
NG_016465.4:g.181759G= , LRG_663:g.181759G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647720.2:c.*31G=	ENSP00000497673.2:n.*31G=
ENST00000647978.2:c.*3536G=	ENSP00000497658.1:n.*3536G=
ENST00000649781.2:c.3639G=	ENSP00000497203.1:p.Trp1213=
ENST00000685018.2:c.3822G=	ENSP00000510194.2:p.Trp1274=
ENST00000687278.2:c.*475G=	ENSP00000509593.2:n.*475G=
ENST00000699585.1:c.*31G=	ENSP00000514456.1:n.*31G=
ENST00000699598.1:c.3822G=	ENSP00000514467.1:p.Trp1274=
ENST00000699599.1:c.3822G=	ENSP00000514468.1:p.Trp1274=
ENST00000699600.1:c.*483G=	ENSP00000514469.1:n.*483G=
ENST00000699601.1:c.*2197G=	ENSP00000514470.1:n.*2197G=
ENST00000699602.1:c.3816G=	ENSP00000514471.1:p.Trp1272=
ENST00000699604.1:c.*3646G=	ENSP00000514472.1:n.*3646G=
ENST00000699605.1:c.3396G=	ENSP00000514473.1:p.Trp1132=
ENST00000685018.1:c.570G=	ENSP00000510194.1:p.Trp190=
ENST00000687278.1:c.1609G=	ENSP00000509593.1:n.1609G=
ENST00000689011.1:c.404G=
ENST00000003084.11:c.3822G= MANE Select	ENSP00000003084.6:p.Trp1274=
ENST00000647720.1:c.1272G=
ENST00000649781.1:c.3639G=	ENSP00000497203.1:p.Trp1213=
ENST00000003084.10:c.3822G=	ENSP00000003084.6:p.Trp1274=
ENST00000426809.5:c.3732G=	ENSP00000389119.1:p.Trp1244=
NM_000492.3:c.3822G= , LRG_663t1:c.3822G=	NP_000483.3:p.Trp1274=
XM_011515751.1:c.3912G=	XP_011514053.1:p.Trp1304=
XM_011515752.1:c.3912G=	XP_011514054.1:p.Trp1304=
XM_011515753.1:c.3579G=	XP_011514055.1:p.Trp1193=
XM_011515754.1:c.3579G=	XP_011514056.1:p.Trp1193=
NM_000492.4:c.3822G= MANE Select	NP_000483.3:p.Trp1274=