Canonical Allele Identifier: CA368984996

Gene: CFTR

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117667005T>A , CM000669.2:g.117667005T>A	GRCh38
NC_000007.13:g.117307059T>A , CM000669.1:g.117307059T>A	GRCh37
NC_000007.12:g.117094295T>A	NCBI36
NG_016465.4:g.206222T>A , LRG_663:g.206222T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647720.2:c.*549T>A	ENSP00000497673.2:n.*549T>A
ENST00000647978.2:c.*4054T>A	ENSP00000497658.1:n.*4054T>A
ENST00000649781.2:c.4157T>A	ENSP00000497203.1:p.Val1386Glu
ENST00000685018.2:c.*553T>A	ENSP00000510194.2:n.*553T>A
ENST00000687278.2:c.*896-597T>A	ENSP00000509593.2:n.*896-597T>A
ENST00000699585.1:c.*809T>A	ENSP00000514456.1:n.*809T>A
ENST00000699598.1:c.*46T>A	ENSP00000514467.1:n.*46T>A
ENST00000699599.1:c.*553T>A	ENSP00000514468.1:n.*553T>A
ENST00000699600.1:c.*904-597T>A	ENSP00000514469.1:n.*904-597T>A
ENST00000699601.1:c.*2715T>A	ENSP00000514470.1:n.*2715T>A
ENST00000699602.1:c.4334T>A	ENSP00000514471.1:p.Val1445Glu
ENST00000699604.1:c.*4164T>A	ENSP00000514472.1:n.*4164T>A
ENST00000699605.1:c.3914T>A	ENSP00000514473.1:p.Val1305Glu
ENST00000699606.1:n.3851T>A
ENST00000685018.1:c.1204T>A	ENSP00000510194.1:n.1204T>A
ENST00000687278.1:c.2030-597T>A	ENSP00000509593.1:n.2030-597T>A
ENST00000689011.1:c.1182T>A
ENST00000003084.11:c.4340T>A MANE Select	ENSP00000003084.6:p.Val1447Glu
ENST00000647720.1:c.1790T>A
ENST00000649781.1:c.4157T>A	ENSP00000497203.1:p.Val1386Glu
ENST00000003084.10:c.4340T>A	ENSP00000003084.6:p.Val1447Glu
ENST00000426809.5:c.4250T>A	ENSP00000389119.1:p.Val1417Glu
ENST00000600166.1:c.368+1441T>A
NM_000492.3:c.4340T>A , LRG_663t1:c.4340T>A	NP_000483.3:p.Val1447Glu
XM_011515751.1:c.4430T>A	XP_011514053.1:p.Val1477Glu
XM_011515753.1:c.4097T>A	XP_011514055.1:p.Val1366Glu
XM_011515754.1:c.4097T>A	XP_011514056.1:p.Val1366Glu
NM_000492.4:c.4340T>A MANE Select	NP_000483.3:p.Val1447Glu