Canonical Allele Identifier: CA1737334967

Gene: CFTR

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117542047T= , CM000669.2:g.117542047T=	GRCh38
NC_000007.13:g.117182101T= , CM000669.1:g.117182101T=	GRCh37
NC_000007.12:g.116969337T=	NCBI36
NG_016465.4:g.81264T= , LRG_663:g.81264T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647720.2:c.1148T=	ENSP00000497673.2:p.Leu383=
ENST00000647978.2:c.*1045T=	ENSP00000497658.1:n.*1045T=
ENST00000649781.2:c.1148T=	ENSP00000497203.1:p.Leu383=
ENST00000685018.2:c.1148T=	ENSP00000510194.2:p.Leu383=
ENST00000687278.2:c.1148T=	ENSP00000509593.2:p.Leu383=
ENST00000699585.1:c.1148T=	ENSP00000514456.1:p.Leu383=
ENST00000699596.1:c.1148T=	ENSP00000514465.1:p.Leu383=
ENST00000699597.1:c.1148T=	ENSP00000514466.1:p.Leu383=
ENST00000699598.1:c.1148T=	ENSP00000514467.1:p.Leu383=
ENST00000699599.1:c.1148T=	ENSP00000514468.1:p.Leu383=
ENST00000699600.1:c.1148T=	ENSP00000514469.1:p.Leu383=
ENST00000699601.1:c.1148T=	ENSP00000514470.1:p.Leu383=
ENST00000699602.1:c.1148T=	ENSP00000514471.1:p.Leu383=
ENST00000699604.1:c.*972T=	ENSP00000514472.1:n.*972T=
ENST00000699605.1:c.905T=	ENSP00000514473.1:p.Leu302=
ENST00000003084.11:c.1148T= MANE Select	ENSP00000003084.6:p.Leu383=
ENST00000647978.1:c.*1045T=	ENSP00000497658.1:n.*1045T=
ENST00000648260.1:c.1148T=	ENSP00000497957.1:p.Leu383=
ENST00000649406.1:c.1148T=	ENSP00000497965.1:p.Leu383=
ENST00000649781.1:c.1148T=	ENSP00000497203.1:p.Leu383=
ENST00000673785.1:c.905T=	ENSP00000501235.1:p.Leu302=
ENST00000003084.10:c.1148T=	ENSP00000003084.6:p.Leu383=
ENST00000426809.5:c.1058T=	ENSP00000389119.1:p.Leu353=
NM_000492.3:c.1148T= , LRG_663t1:c.1148T=	NP_000483.3:p.Leu383=
XM_011515751.1:c.1238T=	XP_011514053.1:p.Leu413=
XM_011515752.1:c.1238T=	XP_011514054.1:p.Leu413=
XM_011515753.1:c.905T=	XP_011514055.1:p.Leu302=
XM_011515754.1:c.905T=	XP_011514056.1:p.Leu302=
NM_000492.4:c.1148T= MANE Select	NP_000483.3:p.Leu383=