Canonical Allele Identifier: CA2697557581

Gene: CFTR

Linked Data

• ClinVar Variation Id: 2757127
• ClinVar RCV Id: RCV003507139

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117603692_117603705del , CM000669.2:g.117603692_117603705del	GRCh38
NC_000007.13:g.117243746_117243759del , CM000669.1:g.117243746_117243759del	GRCh37
NC_000007.12:g.117030982_117030995del	NCBI36
NG_016465.4:g.142909_142922del , LRG_663:g.142909_142922del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647720.2:c.2818_2831del	ENSP00000497673.2:p.Thr940ValfsTer30
ENST00000647978.2:c.*2532_*2545del	ENSP00000497658.1:n.*2532_*2545del
ENST00000649781.2:c.2635_2648del	ENSP00000497203.1:p.Thr879ValfsTer30
ENST00000685018.2:c.2818_2831del	ENSP00000510194.2:p.Thr940ValfsTer30
ENST00000687278.2:c.2818_2831del	ENSP00000509593.2:p.Thr940ValfsTer30
ENST00000699585.1:c.2818_2831del	ENSP00000514456.1:p.Thr940ValfsTer30
ENST00000699598.1:c.2818_2831del	ENSP00000514467.1:p.Thr940ValfsTer30
ENST00000699599.1:c.2818_2831del	ENSP00000514468.1:p.Thr940ValfsTer30
ENST00000699600.1:c.2818_2831del	ENSP00000514469.1:p.Thr940ValfsTer30
ENST00000699601.1:c.*1118_*1131del	ENSP00000514470.1:n.*1118_*1131del
ENST00000699602.1:c.2818_2831del	ENSP00000514471.1:p.Thr940ValfsTer30
ENST00000699604.1:c.*2642_*2655del	ENSP00000514472.1:n.*2642_*2655del
ENST00000699605.1:c.2392_2405del	ENSP00000514473.1:p.Thr798ValfsTer30
ENST00000687278.1:c.409_422del	ENSP00000509593.1:p.Thr137ValfsTer30
ENST00000003084.11:c.2818_2831del MANE Select	ENSP00000003084.6:p.Thr940ValfsTer30
ENST00000647720.1:c.468_481del
ENST00000648260.1:c.1600_1613del	ENSP00000497957.1:p.Thr534ValfsTer30
ENST00000649406.1:c.2635_2648del	ENSP00000497965.1:p.Thr879ValfsTer30
ENST00000649781.1:c.2635_2648del	ENSP00000497203.1:p.Thr879ValfsTer30
ENST00000003084.10:c.2818_2831del	ENSP00000003084.6:p.Thr940ValfsTer30
ENST00000426809.5:c.2728_2741del	ENSP00000389119.1:p.Thr910ValfsTer30
NM_000492.3:c.2818_2831del , LRG_663t1:c.2818_2831del	NP_000483.3:p.Thr940ValfsTer30
XM_011515751.1:c.2908_2921del	XP_011514053.1:p.Thr970ValfsTer30
XM_011515752.1:c.2908_2921del	XP_011514054.1:p.Thr970ValfsTer30
XM_011515753.1:c.2575_2588del	XP_011514055.1:p.Thr859ValfsTer30
XM_011515754.1:c.2575_2588del	XP_011514056.1:p.Thr859ValfsTer30
NM_000492.4:c.2818_2831del MANE Select	NP_000483.3:p.Thr940ValfsTer30