Canonical Allele Identifier: CA327432

Gene: CFTR

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117665490C>T , CM000669.2:g.117665490C>T	GRCh38
NC_000007.13:g.117305544C>T , CM000669.1:g.117305544C>T	GRCh37
NC_000007.12:g.117092780C>T	NCBI36
NG_016465.4:g.204707C>T , LRG_663:g.204707C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_000492.4:c.4168C>T MANE Select	NP_000483.3:p.Gln1390Ter
ENST00000003084.11:c.4168C>T MANE Select	ENSP00000003084.6:p.Gln1390Ter
NM_000492.3:c.4168C>T , LRG_663t1:c.4168C>T	NP_000483.3:p.Gln1390Ter
ENST00000003084.10:c.4168C>T	ENSP00000003084.6:p.Gln1390Ter
ENST00000426809.5:c.4078C>T	ENSP00000389119.1:p.Gln1360Ter
ENST00000600166.1:c.294C>T
ENST00000647720.1:c.1618C>T
ENST00000647720.2:c.*377C>T	ENSP00000497673.2:n.*377C>T
ENST00000647978.2:c.*3882C>T	ENSP00000497658.1:n.*3882C>T
ENST00000649781.1:c.3985C>T	ENSP00000497203.1:p.Gln1329Ter
ENST00000649781.2:c.3985C>T	ENSP00000497203.1:p.Gln1329Ter
ENST00000685018.1:c.1032C>T	ENSP00000510194.1:n.1032C>T
ENST00000685018.2:c.*381C>T	ENSP00000510194.2:n.*381C>T
ENST00000687278.1:c.1955C>T	ENSP00000509593.1:n.1955C>T
ENST00000687278.2:c.*821C>T	ENSP00000509593.2:n.*821C>T
ENST00000689011.1:c.750C>T
ENST00000699585.1:c.*377C>T	ENSP00000514456.1:n.*377C>T
ENST00000699598.1:c.4168C>T	ENSP00000514467.1:p.Gln1390Ter
ENST00000699599.1:c.*381C>T	ENSP00000514468.1:n.*381C>T
ENST00000699600.1:c.*829C>T	ENSP00000514469.1:n.*829C>T
ENST00000699601.1:c.*2543C>T	ENSP00000514470.1:n.*2543C>T
ENST00000699602.1:c.4162C>T	ENSP00000514471.1:p.Gln1388Ter
ENST00000699604.1:c.*3992C>T	ENSP00000514472.1:n.*3992C>T
ENST00000699605.1:c.3742C>T	ENSP00000514473.1:p.Gln1248Ter
ENST00000699606.1:n.2336C>T
XM_011515751.1:c.4258C>T	XP_011514053.1:p.Gln1420Ter
XM_011515752.1:c.4258C>T	XP_011514054.1:p.Gln1420Ter
XM_011515753.1:c.3925C>T	XP_011514055.1:p.Gln1309Ter
XM_011515754.1:c.3925C>T	XP_011514056.1:p.Gln1309Ter