Canonical Allele Identifier: CA2580614240

Gene: CFTR

Linked Data

• ClinVar Variation Id: 2573424
• ClinVar RCV Id: RCV003317760

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647720.2:c.2818dup	ENSP00000497673.2:p.Thr940AsnfsTer?
ENST00000647978.2:c.*2532dup	ENSP00000497658.1:n.*2532dup
ENST00000649781.2:c.2635dup	ENSP00000497203.1:p.Thr879AsnfsTer?
ENST00000685018.2:c.2818dup	ENSP00000510194.2:p.Thr940AsnfsTer?
ENST00000687278.2:c.2818dup	ENSP00000509593.2:p.Thr940AsnfsTer?
ENST00000699585.1:c.2818dup	ENSP00000514456.1:p.Thr940AsnfsTer?
ENST00000699598.1:c.2818dup	ENSP00000514467.1:p.Thr940AsnfsTer?
ENST00000699599.1:c.2818dup	ENSP00000514468.1:p.Thr940AsnfsTer?
ENST00000699600.1:c.2818dup	ENSP00000514469.1:p.Thr940AsnfsTer?
ENST00000699601.1:c.*1118dup	ENSP00000514470.1:n.*1118dup
ENST00000699602.1:c.2818dup	ENSP00000514471.1:p.Thr940AsnfsTer?
ENST00000699604.1:c.*2642dup	ENSP00000514472.1:n.*2642dup
ENST00000699605.1:c.2392dup	ENSP00000514473.1:p.Thr798AsnfsTer?
ENST00000687278.1:c.409dup	ENSP00000509593.1:p.Thr137AsnfsTer?
ENST00000003084.11:c.2818dup MANE Select	ENSP00000003084.6:p.Thr940AsnfsTer?
ENST00000647720.1:c.468dup
ENST00000648260.1:c.1600dup	ENSP00000497957.1:p.Thr534AsnfsTer?
ENST00000649406.1:c.2635dup	ENSP00000497965.1:p.Thr879AsnfsTer?
ENST00000649781.1:c.2635dup	ENSP00000497203.1:p.Thr879AsnfsTer?
ENST00000003084.10:c.2818dup	ENSP00000003084.6:p.Thr940AsnfsTer?
ENST00000426809.5:c.2728dup	ENSP00000389119.1:p.Thr910AsnfsTer?
NM_000492.3:c.2818dup , LRG_663t1:c.2818dup	NP_000483.3:p.Thr940AsnfsTer?
XM_011515751.1:c.2908dup	XP_011514053.1:p.Thr970AsnfsTer?
XM_011515752.1:c.2908dup	XP_011514054.1:p.Thr970AsnfsTer?
XM_011515753.1:c.2575dup	XP_011514055.1:p.Thr859AsnfsTer?
XM_011515754.1:c.2575dup	XP_011514056.1:p.Thr859AsnfsTer?
NM_000492.4:c.2818dup MANE Select	NP_000483.3:p.Thr940AsnfsTer?