Canonical Allele Identifier: CA327335

Gene: CFTR

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117652876A>T , CM000669.2:g.117652876A>T	GRCh38
NC_000007.13:g.117292930A>T , CM000669.1:g.117292930A>T	GRCh37
NC_000007.12:g.117080166A>T	NCBI36
NG_016465.4:g.192093A>T , LRG_663:g.192093A>T

Transcript Alleles

HGVS	Amino-acid Change
NM_000492.4:c.3908A>T MANE Select	NP_000483.3:p.Asn1303Ile
ENST00000003084.11:c.3908A>T MANE Select	ENSP00000003084.6:p.Asn1303Ile
NM_000492.3:c.3908A>T , LRG_663t1:c.3908A>T	NP_000483.3:p.Asn1303Ile
ENST00000003084.10:c.3908A>T	ENSP00000003084.6:p.Asn1303Ile
ENST00000426809.5:c.3818A>T	ENSP00000389119.1:p.Asn1273Ile
ENST00000600166.1:c.34A>T
ENST00000647720.1:c.1358A>T
ENST00000647720.2:c.*117A>T	ENSP00000497673.2:n.*117A>T
ENST00000647978.2:c.*3622A>T	ENSP00000497658.1:n.*3622A>T
ENST00000649781.1:c.3725A>T	ENSP00000497203.1:p.Asn1242Ile
ENST00000649781.2:c.3725A>T	ENSP00000497203.1:p.Asn1242Ile
ENST00000685018.1:c.772A>T	ENSP00000510194.1:n.772A>T
ENST00000685018.2:c.*121A>T	ENSP00000510194.2:n.*121A>T
ENST00000687278.1:c.1695A>T	ENSP00000509593.1:n.1695A>T
ENST00000687278.2:c.*561A>T	ENSP00000509593.2:n.*561A>T
ENST00000689011.1:c.490A>T
ENST00000699585.1:c.*117A>T	ENSP00000514456.1:n.*117A>T
ENST00000699598.1:c.3908A>T	ENSP00000514467.1:p.Asn1303Ile
ENST00000699599.1:c.*121A>T	ENSP00000514468.1:n.*121A>T
ENST00000699600.1:c.*569A>T	ENSP00000514469.1:n.*569A>T
ENST00000699601.1:c.*2283A>T	ENSP00000514470.1:n.*2283A>T
ENST00000699602.1:c.3902A>T	ENSP00000514471.1:p.Asn1301Ile
ENST00000699604.1:c.*3732A>T	ENSP00000514472.1:n.*3732A>T
ENST00000699605.1:c.3482A>T	ENSP00000514473.1:p.Asn1161Ile
ENST00000699606.1:n.2076A>T
XM_011515751.1:c.3998A>T	XP_011514053.1:p.Asn1333Ile
XM_011515752.1:c.3998A>T	XP_011514054.1:p.Asn1333Ile
XM_011515753.1:c.3665A>T	XP_011514055.1:p.Asn1222Ile
XM_011515754.1:c.3665A>T	XP_011514056.1:p.Asn1222Ile