Canonical Allele Identifier: CA1737404944

Gene: CFTR

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117642893C= , CM000669.2:g.117642893C=	GRCh38
NC_000007.13:g.117282947C= , CM000669.1:g.117282947C=	GRCh37
NC_000007.12:g.117070183C=	NCBI36
NG_016465.4:g.182110C= , LRG_663:g.182110C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647720.2:c.*82+300C=	ENSP00000497673.2:n.*82+300C=
ENST00000647978.2:c.*3587+300C=	ENSP00000497658.1:n.*3587+300C=
ENST00000649781.2:c.3690+300C=	ENSP00000497203.1:n.3690+300C=
ENST00000685018.2:c.3899C=	ENSP00000510194.2:p.Ala1300=
ENST00000687278.2:c.*526+300C=	ENSP00000509593.2:n.*526+300C=
ENST00000699585.1:c.*82+300C=	ENSP00000514456.1:n.*82+300C=
ENST00000699598.1:c.3873+300C=	ENSP00000514467.1:n.3873+300C=
ENST00000699599.1:c.3899C=	ENSP00000514468.1:p.Ala1300=
ENST00000699600.1:c.*534+300C=	ENSP00000514469.1:n.*534+300C=
ENST00000699601.1:c.*2248+300C=	ENSP00000514470.1:n.*2248+300C=
ENST00000699602.1:c.3867+300C=	ENSP00000514471.1:n.3867+300C=
ENST00000699604.1:c.*3697+300C=	ENSP00000514472.1:n.*3697+300C=
ENST00000699605.1:c.3447+300C=	ENSP00000514473.1:n.3447+300C=
ENST00000685018.1:c.647C=	ENSP00000510194.1:p.Ala216=
ENST00000687278.1:c.1660+300C=	ENSP00000509593.1:n.1660+300C=
ENST00000689011.1:c.455+300C=
ENST00000003084.11:c.3873+300C= MANE Select	ENSP00000003084.6:n.3873+300C=
ENST00000647720.1:c.1323+300C=
ENST00000649781.1:c.3690+300C=	ENSP00000497203.1:n.3690+300C=
ENST00000003084.10:c.3873+300C=	ENSP00000003084.6:n.3873+300C=
ENST00000426809.5:c.3783+300C=	ENSP00000389119.1:n.3783+300C=
NM_000492.3:c.3873+300C= , LRG_663t1:c.3873+300C=	NP_000483.3:n.3873+300C=
XM_011515751.1:c.3963+300C=	XP_011514053.1:n.3963+300C=
XM_011515752.1:c.3963+300C=	XP_011514054.1:n.3963+300C=
XM_011515753.1:c.3630+300C=	XP_011514055.1:n.3630+300C=
XM_011515754.1:c.3630+300C=	XP_011514056.1:n.3630+300C=
NM_000492.4:c.3873+300C= MANE Select	NP_000483.3:n.3873+300C=