Canonical Allele Identifier: CA1737394536

Gene: CFTR

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117592208G= , CM000669.2:g.117592208G=	GRCh38
NC_000007.13:g.117232262G= , CM000669.1:g.117232262G=	GRCh37
NC_000007.12:g.117019498G=	NCBI36
NG_016465.4:g.131425G= , LRG_663:g.131425G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647720.2:c.2041G=	ENSP00000497673.2:p.Glu681=
ENST00000647978.2:c.*1755G=	ENSP00000497658.1:n.*1755G=
ENST00000649781.2:c.1858G=	ENSP00000497203.1:p.Glu620=
ENST00000685018.2:c.2041G=	ENSP00000510194.2:p.Glu681=
ENST00000687278.2:c.2041G=	ENSP00000509593.2:p.Glu681=
ENST00000699585.1:c.2041G=	ENSP00000514456.1:p.Glu681=
ENST00000699598.1:c.2041G=	ENSP00000514467.1:p.Glu681=
ENST00000699599.1:c.2041G=	ENSP00000514468.1:p.Glu681=
ENST00000699600.1:c.2041G=	ENSP00000514469.1:p.Glu681=
ENST00000699601.1:c.*341G=	ENSP00000514470.1:n.*341G=
ENST00000699602.1:c.2041G=	ENSP00000514471.1:p.Glu681=
ENST00000699604.1:c.*1865G=	ENSP00000514472.1:n.*1865G=
ENST00000699605.1:c.1615G=	ENSP00000514473.1:p.Glu539=
ENST00000003084.11:c.2041G= MANE Select	ENSP00000003084.6:p.Glu681=
ENST00000647978.1:c.*1755G=	ENSP00000497658.1:n.*1755G=
ENST00000648260.1:c.1402-10618G=	ENSP00000497957.1:n.1402-10618G=
ENST00000649406.1:c.1858G=	ENSP00000497965.1:p.Glu620=
ENST00000649781.1:c.1858G=	ENSP00000497203.1:p.Glu620=
ENST00000003084.10:c.2041G=	ENSP00000003084.6:p.Glu681=
ENST00000426809.5:c.1951G=	ENSP00000389119.1:p.Glu651=
NM_000492.3:c.2041G= , LRG_663t1:c.2041G=	NP_000483.3:p.Glu681=
XM_011515751.1:c.2131G=	XP_011514053.1:p.Glu711=
XM_011515752.1:c.2131G=	XP_011514054.1:p.Glu711=
XM_011515753.1:c.1798G=	XP_011514055.1:p.Glu600=
XM_011515754.1:c.1798G=	XP_011514056.1:p.Glu600=
NM_000492.4:c.2041G= MANE Select	NP_000483.3:p.Glu681=