Canonical Allele Identifier: CA1737404762

Gene: CFTR

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117642493T= , CM000669.2:g.117642493T=	GRCh38
NC_000007.13:g.117282547T= , CM000669.1:g.117282547T=	GRCh37
NC_000007.12:g.117069783T=	NCBI36
NG_016465.4:g.181710T= , LRG_663:g.181710T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647720.2:c.3573T=	ENSP00000497673.2:p.Phe1191=
ENST00000647978.2:c.*3487T=	ENSP00000497658.1:n.*3487T=
ENST00000649781.2:c.3590T=	ENSP00000497203.1:p.Leu1197=
ENST00000685018.2:c.3773T=	ENSP00000510194.2:p.Leu1258=
ENST00000687278.2:c.*426T=	ENSP00000509593.2:n.*426T=
ENST00000699585.1:c.3573T=	ENSP00000514456.1:p.Phe1191=
ENST00000699598.1:c.3773T=	ENSP00000514467.1:p.Leu1258=
ENST00000699599.1:c.3773T=	ENSP00000514468.1:p.Leu1258=
ENST00000699600.1:c.*434T=	ENSP00000514469.1:n.*434T=
ENST00000699601.1:c.*2148T=	ENSP00000514470.1:n.*2148T=
ENST00000699602.1:c.3767T=	ENSP00000514471.1:p.Leu1256=
ENST00000699604.1:c.*3597T=	ENSP00000514472.1:n.*3597T=
ENST00000699605.1:c.3347T=	ENSP00000514473.1:p.Leu1116=
ENST00000685018.1:c.521T=	ENSP00000510194.1:p.Leu174=
ENST00000687278.1:c.1560T=	ENSP00000509593.1:n.1560T=
ENST00000689011.1:c.355T=
ENST00000003084.11:c.3773T= MANE Select	ENSP00000003084.6:p.Leu1258=
ENST00000647720.1:c.1223T=
ENST00000649781.1:c.3590T=	ENSP00000497203.1:p.Leu1197=
ENST00000003084.10:c.3773T=	ENSP00000003084.6:p.Leu1258=
ENST00000426809.5:c.3683T=	ENSP00000389119.1:p.Leu1228=
NM_000492.3:c.3773T= , LRG_663t1:c.3773T=	NP_000483.3:p.Leu1258=
XM_011515751.1:c.3863T=	XP_011514053.1:p.Leu1288=
XM_011515752.1:c.3863T=	XP_011514054.1:p.Leu1288=
XM_011515753.1:c.3530T=	XP_011514055.1:p.Leu1177=
XM_011515754.1:c.3530T=	XP_011514056.1:p.Leu1177=
NM_000492.4:c.3773T= MANE Select	NP_000483.3:p.Leu1258=