Canonical Allele Identifier: CA1737394115

Gene: CFTR

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117592066C= , CM000669.2:g.117592066C=	GRCh38
NC_000007.13:g.117232120C= , CM000669.1:g.117232120C=	GRCh37
NC_000007.12:g.117019356C=	NCBI36
NG_016465.4:g.131283C= , LRG_663:g.131283C=

Transcript Alleles

HGVS	Amino-acid change
ENST00000647720.2:c.1899C=	ENSP00000497673.2:p.Leu633=
ENST00000647978.2:c.*1613C=	ENSP00000497658.1:n.*1613C=
ENST00000649781.2:c.1716C=	ENSP00000497203.1:p.Leu572=
ENST00000685018.2:c.1899C=	ENSP00000510194.2:p.Leu633=
ENST00000687278.2:c.1899C=	ENSP00000509593.2:p.Leu633=
ENST00000699585.1:c.1899C=	ENSP00000514456.1:p.Leu633=
ENST00000699598.1:c.1899C=	ENSP00000514467.1:p.Leu633=
ENST00000699599.1:c.1899C=	ENSP00000514468.1:p.Leu633=
ENST00000699600.1:c.1899C=	ENSP00000514469.1:p.Leu633=
ENST00000699601.1:c.*199C=	ENSP00000514470.1:n.*199C=
ENST00000699602.1:c.1899C=	ENSP00000514471.1:p.Leu633=
ENST00000699604.1:c.*1723C=	ENSP00000514472.1:n.*1723C=
ENST00000699605.1:c.1473C=	ENSP00000514473.1:p.Leu491=
ENST00000003084.11:c.1899C= MANE Select	ENSP00000003084.6:p.Leu633=
ENST00000647978.1:c.*1613C=	ENSP00000497658.1:n.*1613C=
ENST00000648260.1:c.1402-10760C=	ENSP00000497957.1:n.1402-10760C=
ENST00000649406.1:c.1716C=	ENSP00000497965.1:p.Leu572=
ENST00000649781.1:c.1716C=	ENSP00000497203.1:p.Leu572=
ENST00000003084.10:c.1899C=	ENSP00000003084.6:p.Leu633=
ENST00000426809.5:c.1809C=	ENSP00000389119.1:p.Leu603=
NM_000492.3:c.1899C= , LRG_663t1:c.1899C=	NP_000483.3:p.Leu633=
XM_011515751.1:c.1989C=	XP_011514053.1:p.Leu663=
XM_011515752.1:c.1989C=	XP_011514054.1:p.Leu663=
XM_011515753.1:c.1656C=	XP_011514055.1:p.Leu552=
XM_011515754.1:c.1656C=	XP_011514056.1:p.Leu552=
NM_000492.4:c.1899C= MANE Select	NP_000483.3:p.Leu633=