Canonical Allele Identifier: CA1737404639

Gene: CFTR

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117642214C= , CM000669.2:g.117642214C=	GRCh38
NC_000007.13:g.117282268C= , CM000669.1:g.117282268C=	GRCh37
NC_000007.12:g.117069504C=	NCBI36
NG_016465.4:g.181431C= , LRG_663:g.181431C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647720.2:c.3518-224C=	ENSP00000497673.2:n.3518-224C=
ENST00000647978.2:c.*3432-224C=	ENSP00000497658.1:n.*3432-224C=
ENST00000649781.2:c.3535-224C=	ENSP00000497203.1:n.3535-224C=
ENST00000685018.2:c.3718-224C=	ENSP00000510194.2:n.3718-224C=
ENST00000687278.2:c.*371-224C=	ENSP00000509593.2:n.*371-224C=
ENST00000699585.1:c.3518-224C=	ENSP00000514456.1:n.3518-224C=
ENST00000699598.1:c.3718-224C=	ENSP00000514467.1:n.3718-224C=
ENST00000699599.1:c.3718-224C=	ENSP00000514468.1:n.3718-224C=
ENST00000699600.1:c.*379-224C=	ENSP00000514469.1:n.*379-224C=
ENST00000699601.1:c.*2093-224C=	ENSP00000514470.1:n.*2093-224C=
ENST00000699602.1:c.3712-224C=	ENSP00000514471.1:n.3712-224C=
ENST00000699604.1:c.*3542-224C=	ENSP00000514472.1:n.*3542-224C=
ENST00000699605.1:c.3292-224C=	ENSP00000514473.1:n.3292-224C=
ENST00000685018.1:c.466-224C=	ENSP00000510194.1:n.466-224C=
ENST00000687278.1:c.1505-224C=	ENSP00000509593.1:n.1505-224C=
ENST00000689011.1:c.300-224C=
ENST00000003084.11:c.3718-224C= MANE Select	ENSP00000003084.6:n.3718-224C=
ENST00000647720.1:c.1168-224C=
ENST00000649781.1:c.3535-224C=	ENSP00000497203.1:n.3535-224C=
ENST00000003084.10:c.3718-224C=	ENSP00000003084.6:n.3718-224C=
ENST00000426809.5:c.3628-224C=	ENSP00000389119.1:n.3628-224C=
NM_000492.3:c.3718-224C= , LRG_663t1:c.3718-224C=	NP_000483.3:n.3718-224C=
XM_011515751.1:c.3808-224C=	XP_011514053.1:n.3808-224C=
XM_011515752.1:c.3808-224C=	XP_011514054.1:n.3808-224C=
XM_011515753.1:c.3475-224C=	XP_011514055.1:n.3475-224C=
XM_011515754.1:c.3475-224C=	XP_011514056.1:n.3475-224C=
NM_000492.4:c.3718-224C= MANE Select	NP_000483.3:n.3718-224C=