Canonical Allele Identifier: CA1737421832

Gene: CFTR

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117664728T= , CM000669.2:g.117664728T=	GRCh38
NC_000007.13:g.117304782T= , CM000669.1:g.117304782T=	GRCh37
NC_000007.12:g.117092018T=	NCBI36
NG_016465.4:g.203945T= , LRG_663:g.203945T=

Transcript Alleles

HGVS	Amino-acid Change
NM_000492.4:c.4004T= MANE Select	NP_000483.3:p.Leu1335=
ENST00000003084.11:c.4004T= MANE Select	ENSP00000003084.6:p.Leu1335=
NM_000492.3:c.4004T= , LRG_663t1:c.4004T=	NP_000483.3:p.Leu1335=
ENST00000003084.10:c.4004T=	ENSP00000003084.6:p.Leu1335=
ENST00000426809.5:c.3914T=	ENSP00000389119.1:p.Leu1305=
ENST00000600166.1:c.130T=
ENST00000647720.1:c.1454T=
ENST00000647720.2:c.*213T=	ENSP00000497673.2:n.*213T=
ENST00000647978.2:c.*3718T=	ENSP00000497658.1:n.*3718T=
ENST00000649781.1:c.3821T=	ENSP00000497203.1:p.Leu1274=
ENST00000649781.2:c.3821T=	ENSP00000497203.1:p.Leu1274=
ENST00000685018.1:c.868T=	ENSP00000510194.1:n.868T=
ENST00000685018.2:c.*217T=	ENSP00000510194.2:n.*217T=
ENST00000687278.1:c.1791T=	ENSP00000509593.1:n.1791T=
ENST00000687278.2:c.*657T=	ENSP00000509593.2:n.*657T=
ENST00000689011.1:c.586T=
ENST00000699585.1:c.*213T=	ENSP00000514456.1:n.*213T=
ENST00000699598.1:c.4004T=	ENSP00000514467.1:p.Leu1335=
ENST00000699599.1:c.*217T=	ENSP00000514468.1:n.*217T=
ENST00000699600.1:c.*665T=	ENSP00000514469.1:n.*665T=
ENST00000699601.1:c.*2379T=	ENSP00000514470.1:n.*2379T=
ENST00000699602.1:c.3998T=	ENSP00000514471.1:p.Leu1333=
ENST00000699604.1:c.*3828T=	ENSP00000514472.1:n.*3828T=
ENST00000699605.1:c.3578T=	ENSP00000514473.1:p.Leu1193=
ENST00000699606.1:n.2172T=
XM_011515751.1:c.4094T=	XP_011514053.1:p.Leu1365=
XM_011515752.1:c.4094T=	XP_011514054.1:p.Leu1365=
XM_011515753.1:c.3761T=	XP_011514055.1:p.Leu1254=
XM_011515754.1:c.3761T=	XP_011514056.1:p.Leu1254=