Canonical Allele Identifier: CA1737387370

Gene: CFTR

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117611728T= , CM000669.2:g.117611728T=	GRCh38
NC_000007.13:g.117251782T= , CM000669.1:g.117251782T=	GRCh37
NC_000007.12:g.117039018T=	NCBI36
NG_016465.4:g.150945T= , LRG_663:g.150945T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647720.2:c.3287T=	ENSP00000497673.2:p.Leu1096=
ENST00000647978.2:c.*3001T=	ENSP00000497658.1:n.*3001T=
ENST00000649781.2:c.3104T=	ENSP00000497203.1:p.Leu1035=
ENST00000685018.2:c.3287T=	ENSP00000510194.2:p.Leu1096=
ENST00000687278.2:c.3287T=	ENSP00000509593.2:p.Leu1096=
ENST00000699585.1:c.3287T=	ENSP00000514456.1:p.Leu1096=
ENST00000699598.1:c.3287T=	ENSP00000514467.1:p.Leu1096=
ENST00000699599.1:c.3287T=	ENSP00000514468.1:p.Leu1096=
ENST00000699600.1:c.3287T=	ENSP00000514469.1:p.Leu1096=
ENST00000699601.1:c.*1587T=	ENSP00000514470.1:n.*1587T=
ENST00000699602.1:c.3287T=	ENSP00000514471.1:p.Leu1096=
ENST00000699604.1:c.*3111T=	ENSP00000514472.1:n.*3111T=
ENST00000699605.1:c.2861T=	ENSP00000514473.1:p.Leu954=
ENST00000685018.1:c.35T=	ENSP00000510194.1:p.Leu12=
ENST00000687278.1:c.878T=	ENSP00000509593.1:p.Leu293=
ENST00000003084.11:c.3287T= MANE Select	ENSP00000003084.6:p.Leu1096=
ENST00000647720.1:c.937T=
ENST00000648260.1:c.2069T=	ENSP00000497957.1:p.Leu690=
ENST00000649406.1:c.3104T=	ENSP00000497965.1:p.Leu1035=
ENST00000649781.1:c.3104T=	ENSP00000497203.1:p.Leu1035=
ENST00000003084.10:c.3287T=	ENSP00000003084.6:p.Leu1096=
ENST00000426809.5:c.3197T=	ENSP00000389119.1:p.Leu1066=
ENST00000468795.1:c.112T=
NM_000492.3:c.3287T= , LRG_663t1:c.3287T=	NP_000483.3:p.Leu1096=
XM_011515751.1:c.3377T=	XP_011514053.1:p.Leu1126=
XM_011515752.1:c.3377T=	XP_011514054.1:p.Leu1126=
XM_011515753.1:c.3044T=	XP_011514055.1:p.Leu1015=
XM_011515754.1:c.3044T=	XP_011514056.1:p.Leu1015=
NM_000492.4:c.3287T= MANE Select	NP_000483.3:p.Leu1096=