Canonical Allele Identifier: CA1737404820

Gene: CFTR

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117642591C= , CM000669.2:g.117642591C=	GRCh38
NC_000007.13:g.117282645C= , CM000669.1:g.117282645C=	GRCh37
NC_000007.12:g.117069881C=	NCBI36
NG_016465.4:g.181808C= , LRG_663:g.181808C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647720.2:c.*80C=	ENSP00000497673.2:n.*80C=
ENST00000647978.2:c.*3585C=	ENSP00000497658.1:n.*3585C=
ENST00000649781.2:c.3688C=	ENSP00000497203.1:p.Gln1230=
ENST00000685018.2:c.3871C=	ENSP00000510194.2:p.Gln1291=
ENST00000687278.2:c.*524C=	ENSP00000509593.2:n.*524C=
ENST00000699585.1:c.*80C=	ENSP00000514456.1:n.*80C=
ENST00000699598.1:c.3871C=	ENSP00000514467.1:p.Gln1291=
ENST00000699599.1:c.3871C=	ENSP00000514468.1:p.Gln1291=
ENST00000699600.1:c.*532C=	ENSP00000514469.1:n.*532C=
ENST00000699601.1:c.*2246C=	ENSP00000514470.1:n.*2246C=
ENST00000699602.1:c.3865C=	ENSP00000514471.1:p.Gln1289=
ENST00000699604.1:c.*3695C=	ENSP00000514472.1:n.*3695C=
ENST00000699605.1:c.3445C=	ENSP00000514473.1:p.Gln1149=
ENST00000685018.1:c.619C=	ENSP00000510194.1:p.Gln207=
ENST00000687278.1:c.1658C=	ENSP00000509593.1:n.1658C=
ENST00000689011.1:c.453C=
ENST00000003084.11:c.3871C= MANE Select	ENSP00000003084.6:p.Gln1291=
ENST00000647720.1:c.1321C=
ENST00000649781.1:c.3688C=	ENSP00000497203.1:p.Gln1230=
ENST00000003084.10:c.3871C=	ENSP00000003084.6:p.Gln1291=
ENST00000426809.5:c.3781C=	ENSP00000389119.1:p.Gln1261=
NM_000492.3:c.3871C= , LRG_663t1:c.3871C=	NP_000483.3:p.Gln1291=
XM_011515751.1:c.3961C=	XP_011514053.1:p.Gln1321=
XM_011515752.1:c.3961C=	XP_011514054.1:p.Gln1321=
XM_011515753.1:c.3628C=	XP_011514055.1:p.Gln1210=
XM_011515754.1:c.3628C=	XP_011514056.1:p.Gln1210=
NM_000492.4:c.3871C= MANE Select	NP_000483.3:p.Gln1291=