Canonical Allele Identifier: CA2580617448

Gene: CFTR

Linked Data

• ClinVar Variation Id: 2577712
• ClinVar RCV Id: RCV003325049

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117603693_117603697del , CM000669.2:g.117603693_117603697del	GRCh38
NC_000007.13:g.117243747_117243751del , CM000669.1:g.117243747_117243751del	GRCh37
NC_000007.12:g.117030983_117030987del	NCBI36
NG_016465.4:g.142910_142914del , LRG_663:g.142910_142914del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647720.2:c.2819_2823del	ENSP00000497673.2:p.Thr940AsnfsTer?
ENST00000647978.2:c.*2533_*2537del	ENSP00000497658.1:n.*2533_*2537del
ENST00000649781.2:c.2636_2640del	ENSP00000497203.1:p.Thr879AsnfsTer?
ENST00000685018.2:c.2819_2823del	ENSP00000510194.2:p.Thr940AsnfsTer?
ENST00000687278.2:c.2819_2823del	ENSP00000509593.2:p.Thr940AsnfsTer?
ENST00000699585.1:c.2819_2823del	ENSP00000514456.1:p.Thr940AsnfsTer?
ENST00000699598.1:c.2819_2823del	ENSP00000514467.1:p.Thr940AsnfsTer?
ENST00000699599.1:c.2819_2823del	ENSP00000514468.1:p.Thr940AsnfsTer?
ENST00000699600.1:c.2819_2823del	ENSP00000514469.1:p.Thr940AsnfsTer?
ENST00000699601.1:c.*1119_*1123del	ENSP00000514470.1:n.*1119_*1123del
ENST00000699602.1:c.2819_2823del	ENSP00000514471.1:p.Thr940AsnfsTer?
ENST00000699604.1:c.*2643_*2647del	ENSP00000514472.1:n.*2643_*2647del
ENST00000699605.1:c.2393_2397del	ENSP00000514473.1:p.Thr798AsnfsTer?
ENST00000687278.1:c.410_414del	ENSP00000509593.1:p.Thr137AsnfsTer?
ENST00000003084.11:c.2819_2823del MANE Select	ENSP00000003084.6:p.Thr940AsnfsTer?
ENST00000647720.1:c.469_473del
ENST00000648260.1:c.1601_1605del	ENSP00000497957.1:p.Thr534AsnfsTer?
ENST00000649406.1:c.2636_2640del	ENSP00000497965.1:p.Thr879AsnfsTer?
ENST00000649781.1:c.2636_2640del	ENSP00000497203.1:p.Thr879AsnfsTer?
ENST00000003084.10:c.2819_2823del	ENSP00000003084.6:p.Thr940AsnfsTer?
ENST00000426809.5:c.2729_2733del	ENSP00000389119.1:p.Thr910AsnfsTer?
NM_000492.3:c.2819_2823del , LRG_663t1:c.2819_2823del	NP_000483.3:p.Thr940AsnfsTer?
XM_011515751.1:c.2909_2913del	XP_011514053.1:p.Thr970AsnfsTer?
XM_011515752.1:c.2909_2913del	XP_011514054.1:p.Thr970AsnfsTer?
XM_011515753.1:c.2576_2580del	XP_011514055.1:p.Thr859AsnfsTer?
XM_011515754.1:c.2576_2580del	XP_011514056.1:p.Thr859AsnfsTer?
NM_000492.4:c.2819_2823del MANE Select	NP_000483.3:p.Thr940AsnfsTer?