Canonical Allele Identifier: CA1737407308

Gene: CFTR

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117666931G= , CM000669.2:g.117666931G=	GRCh38
NC_000007.13:g.117306985G= , CM000669.1:g.117306985G=	GRCh37
NC_000007.12:g.117094221G=	NCBI36
NG_016465.4:g.206148G= , LRG_663:g.206148G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647720.2:c.*475G=	ENSP00000497673.2:n.*475G=
ENST00000647978.2:c.*3980G=	ENSP00000497658.1:n.*3980G=
ENST00000649781.2:c.4083G=	ENSP00000497203.1:p.Arg1361=
ENST00000685018.2:c.*479G=	ENSP00000510194.2:n.*479G=
ENST00000687278.2:c.*896-671G=	ENSP00000509593.2:n.*896-671G=
ENST00000699585.1:c.*735G=	ENSP00000514456.1:n.*735G=
ENST00000699598.1:c.4259G=	ENSP00000514467.1:p.Gly1420=
ENST00000699599.1:c.*479G=	ENSP00000514468.1:n.*479G=
ENST00000699600.1:c.*904-671G=	ENSP00000514469.1:n.*904-671G=
ENST00000699601.1:c.*2641G=	ENSP00000514470.1:n.*2641G=
ENST00000699602.1:c.4260G=	ENSP00000514471.1:p.Arg1420=
ENST00000699604.1:c.*4090G=	ENSP00000514472.1:n.*4090G=
ENST00000699605.1:c.3840G=	ENSP00000514473.1:p.Arg1280=
ENST00000699606.1:n.3777G=
ENST00000685018.1:c.1130G=	ENSP00000510194.1:n.1130G=
ENST00000687278.1:c.2030-671G=	ENSP00000509593.1:n.2030-671G=
ENST00000689011.1:c.1108G=
ENST00000003084.11:c.4266G= MANE Select	ENSP00000003084.6:p.Arg1422=
ENST00000647720.1:c.1716G=
ENST00000649781.1:c.4083G=	ENSP00000497203.1:p.Arg1361=
ENST00000003084.10:c.4266G=	ENSP00000003084.6:p.Arg1422=
ENST00000426809.5:c.4176G=	ENSP00000389119.1:p.Arg1392=
ENST00000600166.1:c.368+1367G=
NM_000492.3:c.4266G= , LRG_663t1:c.4266G=	NP_000483.3:p.Arg1422=
XM_011515751.1:c.4356G=	XP_011514053.1:p.Arg1452=
XM_011515753.1:c.4023G=	XP_011514055.1:p.Arg1341=
XM_011515754.1:c.4023G=	XP_011514056.1:p.Arg1341=
NM_000492.4:c.4266G= MANE Select	NP_000483.3:p.Arg1422=