Canonical Allele Identifier: CA1737408440

Gene: CFTR

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117667975G= , CM000669.2:g.117667975G=	GRCh38
NC_000007.13:g.117308029G= , CM000669.1:g.117308029G=	GRCh37
NC_000007.12:g.117095265G=	NCBI36
NG_016465.4:g.207192G= , LRG_663:g.207192G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647720.2:c.*1519G=	ENSP00000497673.2:n.*1519G=
ENST00000647978.2:c.*5024G=	ENSP00000497658.1:n.*5024G=
ENST00000649781.2:c.*867G=	ENSP00000497203.1:n.*867G=
ENST00000685018.2:c.*1523G=	ENSP00000510194.2:n.*1523G=
ENST00000687278.2:c.*1051+218G=	ENSP00000509593.2:n.*1051+218G=
ENST00000699585.1:c.*1779G=	ENSP00000514456.1:n.*1779G=
ENST00000699598.1:c.*454+218G=	ENSP00000514467.1:n.*454+218G=
ENST00000699599.1:c.*961+218G=	ENSP00000514468.1:n.*961+218G=
ENST00000699600.1:c.*1059+218G=	ENSP00000514469.1:n.*1059+218G=
ENST00000699601.1:c.*3685G=	ENSP00000514470.1:n.*3685G=
ENST00000699602.1:c.*867G=	ENSP00000514471.1:n.*867G=
ENST00000699604.1:c.*5134G=	ENSP00000514472.1:n.*5134G=
ENST00000699605.1:c.*867G=	ENSP00000514473.1:n.*867G=
ENST00000699606.1:n.4821G=
ENST00000685018.1:c.2174G=	ENSP00000510194.1:n.2174G=
ENST00000687278.1:c.2185+218G=	ENSP00000509593.1:n.2185+218G=
ENST00000689011.1:c.2152G=
ENST00000003084.11:c.*867G= MANE Select	ENSP00000003084.6:n.*867G=
ENST00000647720.1:c.2760G=
ENST00000003084.10:c.*867G=	ENSP00000003084.6:n.*867G=
ENST00000600166.1:c.368+2411G=
NM_000492.3:c.*867G= , LRG_663t1:c.*867G=	NP_000483.3:n.*867G=
XM_011515751.1:c.*867G=	XP_011514053.1:n.*867G=
XM_011515753.1:c.*867G=	XP_011514055.1:n.*867G=
XM_011515754.1:c.*867G=	XP_011514056.1:n.*867G=
NM_000492.4:c.*867G= MANE Select	NP_000483.3:n.*867G=