Canonical Allele Identifier: CA1737385269

Gene: CFTR

Linked Data

• dbSNP Id: rs1792370899

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117610664_117610665insAA , CM000669.2:g.117610664_117610665insAA	GRCh38
NC_000007.13:g.117250718_117250719insAA , CM000669.1:g.117250718_117250719insAA	GRCh37
NC_000007.12:g.117037954_117037955insAA	NCBI36
NG_016465.4:g.149881_149882insAA , LRG_663:g.149881_149882insAA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647720.2:c.3134_3135insAA	ENSP00000497673.2:p.Glu1046MetfsTer15
ENST00000647978.2:c.*2848_*2849insAA	ENSP00000497658.1:n.*2848_*2849insAA
ENST00000649781.2:c.2951_2952insAA	ENSP00000497203.1:p.Glu985MetfsTer15
ENST00000685018.2:c.3134_3135insAA	ENSP00000510194.2:p.Glu1046MetfsTer15
ENST00000687278.2:c.3134_3135insAA	ENSP00000509593.2:p.Glu1046MetfsTer15
ENST00000699585.1:c.3134_3135insAA	ENSP00000514456.1:p.Glu1046MetfsTer15
ENST00000699598.1:c.3134_3135insAA	ENSP00000514467.1:p.Glu1046MetfsTer15
ENST00000699599.1:c.3134_3135insAA	ENSP00000514468.1:p.Glu1046MetfsTer15
ENST00000699600.1:c.3134_3135insAA	ENSP00000514469.1:p.Glu1046MetfsTer15
ENST00000699601.1:c.*1434_*1435insAA	ENSP00000514470.1:n.*1434_*1435insAA
ENST00000699602.1:c.3134_3135insAA	ENSP00000514471.1:p.Glu1046MetfsTer15
ENST00000699604.1:c.*2958_*2959insAA	ENSP00000514472.1:n.*2958_*2959insAA
ENST00000699605.1:c.2708_2709insAA	ENSP00000514473.1:p.Glu904MetfsTer15
ENST00000687278.1:c.725_726insAA	ENSP00000509593.1:p.Glu243MetfsTer15
ENST00000003084.11:c.3134_3135insAA MANE Select	ENSP00000003084.6:p.Glu1046MetfsTer15
ENST00000647720.1:c.784_785insAA
ENST00000648260.1:c.1916_1917insAA	ENSP00000497957.1:p.Glu640MetfsTer15
ENST00000649406.1:c.2951_2952insAA	ENSP00000497965.1:p.Glu985MetfsTer15
ENST00000649781.1:c.2951_2952insAA	ENSP00000497203.1:p.Glu985MetfsTer15
ENST00000003084.10:c.3134_3135insAA	ENSP00000003084.6:p.Glu1046MetfsTer15
ENST00000426809.5:c.3044_3045insAA	ENSP00000389119.1:p.Glu1016MetfsTer15
NM_000492.3:c.3134_3135insAA , LRG_663t1:c.3134_3135insAA	NP_000483.3:p.Glu1046MetfsTer15
XM_011515751.1:c.3224_3225insAA	XP_011514053.1:p.Glu1076MetfsTer15
XM_011515752.1:c.3224_3225insAA	XP_011514054.1:p.Glu1076MetfsTer15
XM_011515753.1:c.2891_2892insAA	XP_011514055.1:p.Glu965MetfsTer15
XM_011515754.1:c.2891_2892insAA	XP_011514056.1:p.Glu965MetfsTer15
NM_000492.4:c.3134_3135insAA MANE Select	NP_000483.3:p.Glu1046MetfsTer15