Canonical Allele Identifier: CA1737404802

Gene: CFTR

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117642566G= , CM000669.2:g.117642566G=	GRCh38
NC_000007.13:g.117282620G= , CM000669.1:g.117282620G=	GRCh37
NC_000007.12:g.117069856G=	NCBI36
NG_016465.4:g.181783G= , LRG_663:g.181783G=

Transcript Alleles

HGVS	Amino-acid Change
NM_000492.4:c.3846G= MANE Select	NP_000483.3:p.Trp1282=
ENST00000003084.11:c.3846G= MANE Select	ENSP00000003084.6:p.Trp1282=
NM_000492.3:c.3846G= , LRG_663t1:c.3846G=	NP_000483.3:p.Trp1282=
ENST00000003084.10:c.3846G=	ENSP00000003084.6:p.Trp1282=
ENST00000426809.5:c.3756G=	ENSP00000389119.1:p.Trp1252=
ENST00000647720.1:c.1296G=
ENST00000647720.2:c.*55G=	ENSP00000497673.2:n.*55G=
ENST00000647978.2:c.*3560G=	ENSP00000497658.1:n.*3560G=
ENST00000649781.1:c.3663G=	ENSP00000497203.1:p.Trp1221=
ENST00000649781.2:c.3663G=	ENSP00000497203.1:p.Trp1221=
ENST00000685018.1:c.594G=	ENSP00000510194.1:p.Trp198=
ENST00000685018.2:c.3846G=	ENSP00000510194.2:p.Trp1282=
ENST00000687278.1:c.1633G=	ENSP00000509593.1:n.1633G=
ENST00000687278.2:c.*499G=	ENSP00000509593.2:n.*499G=
ENST00000689011.1:c.428G=
ENST00000699585.1:c.*55G=	ENSP00000514456.1:n.*55G=
ENST00000699598.1:c.3846G=	ENSP00000514467.1:p.Trp1282=
ENST00000699599.1:c.3846G=	ENSP00000514468.1:p.Trp1282=
ENST00000699600.1:c.*507G=	ENSP00000514469.1:n.*507G=
ENST00000699601.1:c.*2221G=	ENSP00000514470.1:n.*2221G=
ENST00000699602.1:c.3840G=	ENSP00000514471.1:p.Trp1280=
ENST00000699604.1:c.*3670G=	ENSP00000514472.1:n.*3670G=
ENST00000699605.1:c.3420G=	ENSP00000514473.1:p.Trp1140=
XM_011515751.1:c.3936G=	XP_011514053.1:p.Trp1312=
XM_011515752.1:c.3936G=	XP_011514054.1:p.Trp1312=
XM_011515753.1:c.3603G=	XP_011514055.1:p.Trp1201=
XM_011515754.1:c.3603G=	XP_011514056.1:p.Trp1201=