Canonical Allele Identifier: CA368984891

Gene: CFTR

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117666992C>T , CM000669.2:g.117666992C>T	GRCh38
NC_000007.13:g.117307046C>T , CM000669.1:g.117307046C>T	GRCh37
NC_000007.12:g.117094282C>T	NCBI36
NG_016465.4:g.206209C>T , LRG_663:g.206209C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_000492.4:c.4327C>T MANE Select	NP_000483.3:p.Pro1443Ser
ENST00000003084.11:c.4327C>T MANE Select	ENSP00000003084.6:p.Pro1443Ser
NM_000492.3:c.4327C>T , LRG_663t1:c.4327C>T	NP_000483.3:p.Pro1443Ser
ENST00000003084.10:c.4327C>T	ENSP00000003084.6:p.Pro1443Ser
ENST00000426809.5:c.4237C>T	ENSP00000389119.1:p.Pro1413Ser
ENST00000600166.1:c.368+1428C>T
ENST00000647720.1:c.1777C>T
ENST00000647720.2:c.*536C>T	ENSP00000497673.2:n.*536C>T
ENST00000647978.2:c.*4041C>T	ENSP00000497658.1:n.*4041C>T
ENST00000649781.1:c.4144C>T	ENSP00000497203.1:p.Pro1382Ser
ENST00000649781.2:c.4144C>T	ENSP00000497203.1:p.Pro1382Ser
ENST00000685018.1:c.1191C>T	ENSP00000510194.1:n.1191C>T
ENST00000685018.2:c.*540C>T	ENSP00000510194.2:n.*540C>T
ENST00000687278.1:c.2030-610C>T	ENSP00000509593.1:n.2030-610C>T
ENST00000687278.2:c.*896-610C>T	ENSP00000509593.2:n.*896-610C>T
ENST00000689011.1:c.1169C>T
ENST00000699585.1:c.*796C>T	ENSP00000514456.1:n.*796C>T
ENST00000699598.1:c.*33C>T	ENSP00000514467.1:n.*33C>T
ENST00000699599.1:c.*540C>T	ENSP00000514468.1:n.*540C>T
ENST00000699600.1:c.*904-610C>T	ENSP00000514469.1:n.*904-610C>T
ENST00000699601.1:c.*2702C>T	ENSP00000514470.1:n.*2702C>T
ENST00000699602.1:c.4321C>T	ENSP00000514471.1:p.Pro1441Ser
ENST00000699604.1:c.*4151C>T	ENSP00000514472.1:n.*4151C>T
ENST00000699605.1:c.3901C>T	ENSP00000514473.1:p.Pro1301Ser
ENST00000699606.1:n.3838C>T
XM_011515751.1:c.4417C>T	XP_011514053.1:p.Pro1473Ser
XM_011515753.1:c.4084C>T	XP_011514055.1:p.Pro1362Ser
XM_011515754.1:c.4084C>T	XP_011514056.1:p.Pro1362Ser