Canonical Allele Identifier: CA164952756

Gene: CFTR

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117652893C>T , CM000669.2:g.117652893C>T	GRCh38
NC_000007.13:g.117292947C>T , CM000669.1:g.117292947C>T	GRCh37
NC_000007.12:g.117080183C>T	NCBI36
NG_016465.4:g.192110C>T , LRG_663:g.192110C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_000492.4:c.3925C>T MANE Select	NP_000483.3:p.Gln1309Ter
ENST00000003084.11:c.3925C>T MANE Select	ENSP00000003084.6:p.Gln1309Ter
NM_000492.3:c.3925C>T , LRG_663t1:c.3925C>T	NP_000483.3:p.Gln1309Ter
ENST00000003084.10:c.3925C>T	ENSP00000003084.6:p.Gln1309Ter
ENST00000426809.5:c.3835C>T	ENSP00000389119.1:p.Gln1279Ter
ENST00000600166.1:c.51C>T
ENST00000647720.1:c.1375C>T
ENST00000647720.2:c.*134C>T	ENSP00000497673.2:n.*134C>T
ENST00000647978.2:c.*3639C>T	ENSP00000497658.1:n.*3639C>T
ENST00000649781.1:c.3742C>T	ENSP00000497203.1:p.Gln1248Ter
ENST00000649781.2:c.3742C>T	ENSP00000497203.1:p.Gln1248Ter
ENST00000685018.1:c.789C>T	ENSP00000510194.1:n.789C>T
ENST00000685018.2:c.*138C>T	ENSP00000510194.2:n.*138C>T
ENST00000687278.1:c.1712C>T	ENSP00000509593.1:n.1712C>T
ENST00000687278.2:c.*578C>T	ENSP00000509593.2:n.*578C>T
ENST00000689011.1:c.507C>T
ENST00000699585.1:c.*134C>T	ENSP00000514456.1:n.*134C>T
ENST00000699598.1:c.3925C>T	ENSP00000514467.1:p.Gln1309Ter
ENST00000699599.1:c.*138C>T	ENSP00000514468.1:n.*138C>T
ENST00000699600.1:c.*586C>T	ENSP00000514469.1:n.*586C>T
ENST00000699601.1:c.*2300C>T	ENSP00000514470.1:n.*2300C>T
ENST00000699602.1:c.3919C>T	ENSP00000514471.1:p.Gln1307Ter
ENST00000699604.1:c.*3749C>T	ENSP00000514472.1:n.*3749C>T
ENST00000699605.1:c.3499C>T	ENSP00000514473.1:p.Gln1167Ter
ENST00000699606.1:n.2093C>T
XM_011515751.1:c.4015C>T	XP_011514053.1:p.Gln1339Ter
XM_011515752.1:c.4015C>T	XP_011514054.1:p.Gln1339Ter
XM_011515753.1:c.3682C>T	XP_011514055.1:p.Gln1228Ter
XM_011515754.1:c.3682C>T	XP_011514056.1:p.Gln1228Ter