Canonical Allele Identifier: CA1737421962

Gene: CFTR

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117664770G= , CM000669.2:g.117664770G=	GRCh38
NC_000007.13:g.117304824G= , CM000669.1:g.117304824G=	GRCh37
NC_000007.12:g.117092060G=	NCBI36
NG_016465.4:g.203987G= , LRG_663:g.203987G=

Transcript Alleles

HGVS	Amino-acid Change
NM_000492.4:c.4046G= MANE Select	NP_000483.3:p.Gly1349=
ENST00000003084.11:c.4046G= MANE Select	ENSP00000003084.6:p.Gly1349=
NM_000492.3:c.4046G= , LRG_663t1:c.4046G=	NP_000483.3:p.Gly1349=
ENST00000003084.10:c.4046G=	ENSP00000003084.6:p.Gly1349=
ENST00000426809.5:c.3956G=	ENSP00000389119.1:p.Gly1319=
ENST00000600166.1:c.172G=
ENST00000647720.1:c.1496G=
ENST00000647720.2:c.*255G=	ENSP00000497673.2:n.*255G=
ENST00000647978.2:c.*3760G=	ENSP00000497658.1:n.*3760G=
ENST00000649781.1:c.3863G=	ENSP00000497203.1:p.Gly1288=
ENST00000649781.2:c.3863G=	ENSP00000497203.1:p.Gly1288=
ENST00000685018.1:c.910G=	ENSP00000510194.1:n.910G=
ENST00000685018.2:c.*259G=	ENSP00000510194.2:n.*259G=
ENST00000687278.1:c.1833G=	ENSP00000509593.1:n.1833G=
ENST00000687278.2:c.*699G=	ENSP00000509593.2:n.*699G=
ENST00000689011.1:c.628G=
ENST00000699585.1:c.*255G=	ENSP00000514456.1:n.*255G=
ENST00000699598.1:c.4046G=	ENSP00000514467.1:p.Gly1349=
ENST00000699599.1:c.*259G=	ENSP00000514468.1:n.*259G=
ENST00000699600.1:c.*707G=	ENSP00000514469.1:n.*707G=
ENST00000699601.1:c.*2421G=	ENSP00000514470.1:n.*2421G=
ENST00000699602.1:c.4040G=	ENSP00000514471.1:p.Gly1347=
ENST00000699604.1:c.*3870G=	ENSP00000514472.1:n.*3870G=
ENST00000699605.1:c.3620G=	ENSP00000514473.1:p.Gly1207=
ENST00000699606.1:n.2214G=
XM_011515751.1:c.4136G=	XP_011514053.1:p.Gly1379=
XM_011515752.1:c.4136G=	XP_011514054.1:p.Gly1379=
XM_011515753.1:c.3803G=	XP_011514055.1:p.Gly1268=
XM_011515754.1:c.3803G=	XP_011514056.1:p.Gly1268=