Canonical Allele Identifier: CA1737404752

Gene: CFTR

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117642481T= , CM000669.2:g.117642481T=	GRCh38
NC_000007.13:g.117282535T= , CM000669.1:g.117282535T=	GRCh37
NC_000007.12:g.117069771T=	NCBI36
NG_016465.4:g.181698T= , LRG_663:g.181698T=

Transcript Alleles

HGVS	Amino-acid change
ENST00000647720.2:c.3561T=	ENSP00000497673.2:p.Val1187=
ENST00000647978.2:c.*3475T=	ENSP00000497658.1:n.*3475T=
ENST00000649781.2:c.3578T=	ENSP00000497203.1:p.Leu1193=
ENST00000685018.2:c.3761T=	ENSP00000510194.2:p.Leu1254=
ENST00000687278.2:c.*414T=	ENSP00000509593.2:n.*414T=
ENST00000699585.1:c.3561T=	ENSP00000514456.1:p.Val1187=
ENST00000699598.1:c.3761T=	ENSP00000514467.1:p.Leu1254=
ENST00000699599.1:c.3761T=	ENSP00000514468.1:p.Leu1254=
ENST00000699600.1:c.*422T=	ENSP00000514469.1:n.*422T=
ENST00000699601.1:c.*2136T=	ENSP00000514470.1:n.*2136T=
ENST00000699602.1:c.3755T=	ENSP00000514471.1:p.Leu1252=
ENST00000699604.1:c.*3585T=	ENSP00000514472.1:n.*3585T=
ENST00000699605.1:c.3335T=	ENSP00000514473.1:p.Leu1112=
ENST00000685018.1:c.509T=	ENSP00000510194.1:p.Leu170=
ENST00000687278.1:c.1548T=	ENSP00000509593.1:n.1548T=
ENST00000689011.1:c.343T=
ENST00000003084.11:c.3761T= MANE Select	ENSP00000003084.6:p.Leu1254=
ENST00000647720.1:c.1211T=
ENST00000649781.1:c.3578T=	ENSP00000497203.1:p.Leu1193=
ENST00000003084.10:c.3761T=	ENSP00000003084.6:p.Leu1254=
ENST00000426809.5:c.3671T=	ENSP00000389119.1:p.Leu1224=
NM_000492.3:c.3761T= , LRG_663t1:c.3761T=	NP_000483.3:p.Leu1254=
XM_011515751.1:c.3851T=	XP_011514053.1:p.Leu1284=
XM_011515752.1:c.3851T=	XP_011514054.1:p.Leu1284=
XM_011515753.1:c.3518T=	XP_011514055.1:p.Leu1173=
XM_011515754.1:c.3518T=	XP_011514056.1:p.Leu1173=
NM_000492.4:c.3761T= MANE Select	NP_000483.3:p.Leu1254=