Canonical Allele Identifier: CA327289

Gene: CFTR

Linked Data

• dbSNP Id: rs397508608

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117642494dup , CM000669.2:g.117642494dup	GRCh38
NC_000007.13:g.117282548dup , CM000669.1:g.117282548dup	GRCh37
NC_000007.12:g.117069784dup	NCBI36
NG_016465.4:g.181711dup , LRG_663:g.181711dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000647720.2:c.3574dup	ENSP00000497673.2:p.Glu1192GlyfsTer4
ENST00000647978.2:c.*3488dup	ENSP00000497658.1:n.*3488dup
ENST00000649781.2:c.3591dup	ENSP00000497203.1:p.Arg1198GlufsTer6
ENST00000685018.2:c.3774dup	ENSP00000510194.2:p.Arg1259GlufsTer6
ENST00000687278.2:c.*427dup	ENSP00000509593.2:n.*427dup
ENST00000699585.1:c.3574dup	ENSP00000514456.1:p.Glu1192GlyfsTer4
ENST00000699598.1:c.3774dup	ENSP00000514467.1:p.Arg1259GlufsTer6
ENST00000699599.1:c.3774dup	ENSP00000514468.1:p.Arg1259GlufsTer6
ENST00000699600.1:c.*435dup	ENSP00000514469.1:n.*435dup
ENST00000699601.1:c.*2149dup	ENSP00000514470.1:n.*2149dup
ENST00000699602.1:c.3768dup	ENSP00000514471.1:p.Arg1257GlufsTer6
ENST00000699604.1:c.*3598dup	ENSP00000514472.1:n.*3598dup
ENST00000699605.1:c.3348dup	ENSP00000514473.1:p.Arg1117GlufsTer6
ENST00000685018.1:c.522dup	ENSP00000510194.1:p.Arg175GlufsTer6
ENST00000687278.1:c.1561dup	ENSP00000509593.1:n.1561dup
ENST00000689011.1:c.356dup
ENST00000003084.11:c.3774dup MANE Select	ENSP00000003084.6:p.Arg1259GlufsTer6
ENST00000647720.1:c.1224dup
ENST00000649781.1:c.3591dup	ENSP00000497203.1:p.Arg1198GlufsTer6
ENST00000003084.10:c.3774dup	ENSP00000003084.6:p.Arg1259GlufsTer6
ENST00000426809.5:c.3684dup	ENSP00000389119.1:p.Arg1229GlufsTer6
NM_000492.3:c.3774dup , LRG_663t1:c.3774dup	NP_000483.3:p.Arg1259GlufsTer6
XM_011515751.1:c.3864dup	XP_011514053.1:p.Arg1289GlufsTer6
XM_011515752.1:c.3864dup	XP_011514054.1:p.Arg1289GlufsTer6
XM_011515753.1:c.3531dup	XP_011514055.1:p.Arg1178GlufsTer6
XM_011515754.1:c.3531dup	XP_011514056.1:p.Arg1178GlufsTer6
NM_000492.4:c.3774dup MANE Select	NP_000483.3:p.Arg1259GlufsTer6