Canonical Allele Identifier: CA1737407649

Gene: CFTR

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117667054G= , CM000669.2:g.117667054G=	GRCh38
NC_000007.13:g.117307108G= , CM000669.1:g.117307108G=	GRCh37
NC_000007.12:g.117094344G=	NCBI36
NG_016465.4:g.206271G= , LRG_663:g.206271G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647720.2:c.*598G=	ENSP00000497673.2:n.*598G=
ENST00000647978.2:c.*4103G=	ENSP00000497658.1:n.*4103G=
ENST00000649781.2:c.4206G=	ENSP00000497203.1:p.Gln1402=
ENST00000685018.2:c.*602G=	ENSP00000510194.2:n.*602G=
ENST00000687278.2:c.*896-548G=	ENSP00000509593.2:n.*896-548G=
ENST00000699585.1:c.*858G=	ENSP00000514456.1:n.*858G=
ENST00000699598.1:c.*95G=	ENSP00000514467.1:n.*95G=
ENST00000699599.1:c.*602G=	ENSP00000514468.1:n.*602G=
ENST00000699600.1:c.*904-548G=	ENSP00000514469.1:n.*904-548G=
ENST00000699601.1:c.*2764G=	ENSP00000514470.1:n.*2764G=
ENST00000699602.1:c.4383G=	ENSP00000514471.1:p.Gln1461=
ENST00000699604.1:c.*4213G=	ENSP00000514472.1:n.*4213G=
ENST00000699605.1:c.3963G=	ENSP00000514473.1:p.Gln1321=
ENST00000699606.1:n.3900G=
ENST00000685018.1:c.1253G=	ENSP00000510194.1:n.1253G=
ENST00000687278.1:c.2030-548G=	ENSP00000509593.1:n.2030-548G=
ENST00000689011.1:c.1231G=
ENST00000003084.11:c.4389G= MANE Select	ENSP00000003084.6:p.Gln1463=
ENST00000647720.1:c.1839G=
ENST00000649781.1:c.4206G=	ENSP00000497203.1:p.Gln1402=
ENST00000003084.10:c.4389G=	ENSP00000003084.6:p.Gln1463=
ENST00000426809.5:c.4299G=	ENSP00000389119.1:p.Gln1433=
ENST00000600166.1:c.368+1490G=
NM_000492.3:c.4389G= , LRG_663t1:c.4389G=	NP_000483.3:p.Gln1463=
XM_011515751.1:c.4479G=	XP_011514053.1:p.Gln1493=
XM_011515753.1:c.4146G=	XP_011514055.1:p.Gln1382=
XM_011515754.1:c.4146G=	XP_011514056.1:p.Gln1382=
NM_000492.4:c.4389G= MANE Select	NP_000483.3:p.Gln1463=