Canonical Allele Identifier: CA1737393883

Gene: CFTR

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117591974G= , CM000669.2:g.117591974G=	GRCh38
NC_000007.13:g.117232028G= , CM000669.1:g.117232028G=	GRCh37
NC_000007.12:g.117019264G=	NCBI36
NG_016465.4:g.131191G= , LRG_663:g.131191G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647720.2:c.1807G=	ENSP00000497673.2:p.Val603=
ENST00000647978.2:c.*1521G=	ENSP00000497658.1:n.*1521G=
ENST00000649781.2:c.1624G=	ENSP00000497203.1:p.Val542=
ENST00000685018.2:c.1807G=	ENSP00000510194.2:p.Val603=
ENST00000687278.2:c.1807G=	ENSP00000509593.2:p.Val603=
ENST00000699585.1:c.1807G=	ENSP00000514456.1:p.Val603=
ENST00000699598.1:c.1807G=	ENSP00000514467.1:p.Val603=
ENST00000699599.1:c.1807G=	ENSP00000514468.1:p.Val603=
ENST00000699600.1:c.1807G=	ENSP00000514469.1:p.Val603=
ENST00000699601.1:c.*107G=	ENSP00000514470.1:n.*107G=
ENST00000699602.1:c.1807G=	ENSP00000514471.1:p.Val603=
ENST00000699604.1:c.*1631G=	ENSP00000514472.1:n.*1631G=
ENST00000699605.1:c.1381G=	ENSP00000514473.1:p.Val461=
ENST00000003084.11:c.1807G= MANE Select	ENSP00000003084.6:p.Val603=
ENST00000647978.1:c.*1521G=	ENSP00000497658.1:n.*1521G=
ENST00000648260.1:c.1402-10852G=	ENSP00000497957.1:n.1402-10852G=
ENST00000649406.1:c.1624G=	ENSP00000497965.1:p.Val542=
ENST00000649781.1:c.1624G=	ENSP00000497203.1:p.Val542=
ENST00000003084.10:c.1807G=	ENSP00000003084.6:p.Val603=
ENST00000426809.5:c.1717G=	ENSP00000389119.1:p.Val573=
NM_000492.3:c.1807G= , LRG_663t1:c.1807G=	NP_000483.3:p.Val603=
XM_011515751.1:c.1897G=	XP_011514053.1:p.Val633=
XM_011515752.1:c.1897G=	XP_011514054.1:p.Val633=
XM_011515753.1:c.1564G=	XP_011514055.1:p.Val522=
XM_011515754.1:c.1564G=	XP_011514056.1:p.Val522=
NM_000492.4:c.1807G= MANE Select	NP_000483.3:p.Val603=