Canonical Allele Identifier: CA1737421849

Gene: CFTR

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117664740T= , CM000669.2:g.117664740T=	GRCh38
NC_000007.13:g.117304794T= , CM000669.1:g.117304794T=	GRCh37
NC_000007.12:g.117092030T=	NCBI36
NG_016465.4:g.203957T= , LRG_663:g.203957T=

Transcript Alleles

HGVS	Amino-acid change
ENST00000647720.2:c.*225T=	ENSP00000497673.2:n.*225T=
ENST00000647978.2:c.*3730T=	ENSP00000497658.1:n.*3730T=
ENST00000649781.2:c.3833T=	ENSP00000497203.1:p.Leu1278=
ENST00000685018.2:c.*229T=	ENSP00000510194.2:n.*229T=
ENST00000687278.2:c.*669T=	ENSP00000509593.2:n.*669T=
ENST00000699585.1:c.*225T=	ENSP00000514456.1:n.*225T=
ENST00000699598.1:c.4016T=	ENSP00000514467.1:p.Leu1339=
ENST00000699599.1:c.*229T=	ENSP00000514468.1:n.*229T=
ENST00000699600.1:c.*677T=	ENSP00000514469.1:n.*677T=
ENST00000699601.1:c.*2391T=	ENSP00000514470.1:n.*2391T=
ENST00000699602.1:c.4010T=	ENSP00000514471.1:p.Leu1337=
ENST00000699604.1:c.*3840T=	ENSP00000514472.1:n.*3840T=
ENST00000699605.1:c.3590T=	ENSP00000514473.1:p.Leu1197=
ENST00000699606.1:n.2184T=
ENST00000685018.1:c.880T=	ENSP00000510194.1:n.880T=
ENST00000687278.1:c.1803T=	ENSP00000509593.1:n.1803T=
ENST00000689011.1:c.598T=
ENST00000003084.11:c.4016T= MANE Select	ENSP00000003084.6:p.Leu1339=
ENST00000647720.1:c.1466T=
ENST00000649781.1:c.3833T=	ENSP00000497203.1:p.Leu1278=
ENST00000003084.10:c.4016T=	ENSP00000003084.6:p.Leu1339=
ENST00000426809.5:c.3926T=	ENSP00000389119.1:p.Leu1309=
ENST00000600166.1:c.142T=
NM_000492.3:c.4016T= , LRG_663t1:c.4016T=	NP_000483.3:p.Leu1339=
XM_011515751.1:c.4106T=	XP_011514053.1:p.Leu1369=
XM_011515752.1:c.4106T=	XP_011514054.1:p.Leu1369=
XM_011515753.1:c.3773T=	XP_011514055.1:p.Leu1258=
XM_011515754.1:c.3773T=	XP_011514056.1:p.Leu1258=
NM_000492.4:c.4016T= MANE Select	NP_000483.3:p.Leu1339=