Canonical Allele Identifier: CA368983766

Gene: CFTR

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117665547G>T , CM000669.2:g.117665547G>T	GRCh38
NC_000007.13:g.117305601G>T , CM000669.1:g.117305601G>T	GRCh37
NC_000007.12:g.117092837G>T	NCBI36
NG_016465.4:g.204764G>T , LRG_663:g.204764G>T

Transcript Alleles

HGVS	Amino-acid Change
NM_000492.4:c.4225G>T MANE Select	NP_000483.3:p.Glu1409Ter
ENST00000003084.11:c.4225G>T MANE Select	ENSP00000003084.6:p.Glu1409Ter
NM_000492.3:c.4225G>T , LRG_663t1:c.4225G>T	NP_000483.3:p.Glu1409Ter
ENST00000003084.10:c.4225G>T	ENSP00000003084.6:p.Glu1409Ter
ENST00000426809.5:c.4135G>T	ENSP00000389119.1:p.Glu1379Ter
ENST00000600166.1:c.351G>T
ENST00000647720.1:c.1675G>T
ENST00000647720.2:c.*434G>T	ENSP00000497673.2:n.*434G>T
ENST00000647978.2:c.*3939G>T	ENSP00000497658.1:n.*3939G>T
ENST00000649781.1:c.4042G>T	ENSP00000497203.1:p.Glu1348Ter
ENST00000649781.2:c.4042G>T	ENSP00000497203.1:p.Glu1348Ter
ENST00000685018.1:c.1089G>T	ENSP00000510194.1:n.1089G>T
ENST00000685018.2:c.*438G>T	ENSP00000510194.2:n.*438G>T
ENST00000687278.1:c.2012G>T	ENSP00000509593.1:n.2012G>T
ENST00000687278.2:c.*878G>T	ENSP00000509593.2:n.*878G>T
ENST00000689011.1:c.807G>T
ENST00000699585.1:c.*434G>T	ENSP00000514456.1:n.*434G>T
ENST00000699598.1:c.4225G>T	ENSP00000514467.1:p.Glu1409Ter
ENST00000699599.1:c.*438G>T	ENSP00000514468.1:n.*438G>T
ENST00000699600.1:c.*886G>T	ENSP00000514469.1:n.*886G>T
ENST00000699601.1:c.*2600G>T	ENSP00000514470.1:n.*2600G>T
ENST00000699602.1:c.4219G>T	ENSP00000514471.1:p.Glu1407Ter
ENST00000699604.1:c.*4049G>T	ENSP00000514472.1:n.*4049G>T
ENST00000699605.1:c.3799G>T	ENSP00000514473.1:p.Glu1267Ter
ENST00000699606.1:n.2393G>T
XM_011515751.1:c.4315G>T	XP_011514053.1:p.Glu1439Ter
XM_011515752.1:c.4315G>T	XP_011514054.1:p.Glu1439Ter
XM_011515753.1:c.3982G>T	XP_011514055.1:p.Glu1328Ter
XM_011515754.1:c.3982G>T	XP_011514056.1:p.Glu1328Ter