Canonical Allele Identifier: CA1737398712

Gene: CFTR

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117627733T= , CM000669.2:g.117627733T=	GRCh38
NC_000007.13:g.117267787T= , CM000669.1:g.117267787T=	GRCh37
NC_000007.12:g.117055023T=	NCBI36
NG_016465.4:g.166950T= , LRG_663:g.166950T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647720.2:c.3517+163T=	ENSP00000497673.2:n.3517+163T=
ENST00000647978.2:c.*3394T=	ENSP00000497658.1:n.*3394T=
ENST00000649781.2:c.3497T=	ENSP00000497203.1:p.Leu1166=
ENST00000685018.2:c.3680T=	ENSP00000510194.2:p.Leu1227=
ENST00000687278.2:c.*333T=	ENSP00000509593.2:n.*333T=
ENST00000699585.1:c.3517+163T=	ENSP00000514456.1:n.3517+163T=
ENST00000699598.1:c.3680T=	ENSP00000514467.1:p.Leu1227=
ENST00000699599.1:c.3680T=	ENSP00000514468.1:p.Leu1227=
ENST00000699600.1:c.*341T=	ENSP00000514469.1:n.*341T=
ENST00000699601.1:c.*2055T=	ENSP00000514470.1:n.*2055T=
ENST00000699602.1:c.3674T=	ENSP00000514471.1:p.Leu1225=
ENST00000699604.1:c.*3504T=	ENSP00000514472.1:n.*3504T=
ENST00000699605.1:c.3254T=	ENSP00000514473.1:p.Leu1085=
ENST00000685018.1:c.428T=	ENSP00000510194.1:p.Leu143=
ENST00000687278.1:c.1467T=	ENSP00000509593.1:n.1467T=
ENST00000689011.1:c.262T=
ENST00000003084.11:c.3680T= MANE Select	ENSP00000003084.6:p.Leu1227=
ENST00000647720.1:c.1167+163T=
ENST00000648260.1:c.2462T=	ENSP00000497957.1:p.Leu821=
ENST00000649406.1:c.3497T=	ENSP00000497965.1:p.Leu1166=
ENST00000649781.1:c.3497T=	ENSP00000497203.1:p.Leu1166=
ENST00000003084.10:c.3680T=	ENSP00000003084.6:p.Leu1227=
ENST00000426809.5:c.3590T=	ENSP00000389119.1:p.Leu1197=
ENST00000468795.1:c.505T=
NM_000492.3:c.3680T= , LRG_663t1:c.3680T=	NP_000483.3:p.Leu1227=
XM_011515751.1:c.3770T=	XP_011514053.1:p.Leu1257=
XM_011515752.1:c.3770T=	XP_011514054.1:p.Leu1257=
XM_011515753.1:c.3437T=	XP_011514055.1:p.Leu1146=
XM_011515754.1:c.3437T=	XP_011514056.1:p.Leu1146=
NM_000492.4:c.3680T= MANE Select	NP_000483.3:p.Leu1227=