Canonical Allele Identifier: CA1737422985

Gene: CFTR

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117665545T= , CM000669.2:g.117665545T=	GRCh38
NC_000007.13:g.117305599T= , CM000669.1:g.117305599T=	GRCh37
NC_000007.12:g.117092835T=	NCBI36
NG_016465.4:g.204762T= , LRG_663:g.204762T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647720.2:c.*432T=	ENSP00000497673.2:n.*432T=
ENST00000647978.2:c.*3937T=	ENSP00000497658.1:n.*3937T=
ENST00000649781.2:c.4040T=	ENSP00000497203.1:p.Leu1347=
ENST00000685018.2:c.*436T=	ENSP00000510194.2:n.*436T=
ENST00000687278.2:c.*876T=	ENSP00000509593.2:n.*876T=
ENST00000699585.1:c.*432T=	ENSP00000514456.1:n.*432T=
ENST00000699598.1:c.4223T=	ENSP00000514467.1:p.Leu1408=
ENST00000699599.1:c.*436T=	ENSP00000514468.1:n.*436T=
ENST00000699600.1:c.*884T=	ENSP00000514469.1:n.*884T=
ENST00000699601.1:c.*2598T=	ENSP00000514470.1:n.*2598T=
ENST00000699602.1:c.4217T=	ENSP00000514471.1:p.Leu1406=
ENST00000699604.1:c.*4047T=	ENSP00000514472.1:n.*4047T=
ENST00000699605.1:c.3797T=	ENSP00000514473.1:p.Leu1266=
ENST00000699606.1:n.2391T=
ENST00000685018.1:c.1087T=	ENSP00000510194.1:n.1087T=
ENST00000687278.1:c.2010T=	ENSP00000509593.1:n.2010T=
ENST00000689011.1:c.805T=
ENST00000003084.11:c.4223T= MANE Select	ENSP00000003084.6:p.Leu1408=
ENST00000647720.1:c.1673T=
ENST00000649781.1:c.4040T=	ENSP00000497203.1:p.Leu1347=
ENST00000003084.10:c.4223T=	ENSP00000003084.6:p.Leu1408=
ENST00000426809.5:c.4133T=	ENSP00000389119.1:p.Leu1378=
ENST00000600166.1:c.349T=
NM_000492.3:c.4223T= , LRG_663t1:c.4223T=	NP_000483.3:p.Leu1408=
XM_011515751.1:c.4313T=	XP_011514053.1:p.Leu1438=
XM_011515752.1:c.4313T=	XP_011514054.1:p.Leu1438=
XM_011515753.1:c.3980T=	XP_011514055.1:p.Leu1327=
XM_011515754.1:c.3980T=	XP_011514056.1:p.Leu1327=
NM_000492.4:c.4223T= MANE Select	NP_000483.3:p.Leu1408=