Canonical Allele Identifier: CA327332

Gene: CFTR

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117652864C>T , CM000669.2:g.117652864C>T	GRCh38
NC_000007.13:g.117292918C>T , CM000669.1:g.117292918C>T	GRCh37
NC_000007.12:g.117080154C>T	NCBI36
NG_016465.4:g.192081C>T , LRG_663:g.192081C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_000492.4:c.3896C>T MANE Select	NP_000483.3:p.Thr1299Ile
ENST00000003084.11:c.3896C>T MANE Select	ENSP00000003084.6:p.Thr1299Ile
NM_000492.3:c.3896C>T , LRG_663t1:c.3896C>T	NP_000483.3:p.Thr1299Ile
ENST00000003084.10:c.3896C>T	ENSP00000003084.6:p.Thr1299Ile
ENST00000426809.5:c.3806C>T	ENSP00000389119.1:p.Thr1269Ile
ENST00000600166.1:c.22C>T
ENST00000647720.1:c.1346C>T
ENST00000647720.2:c.*105C>T	ENSP00000497673.2:n.*105C>T
ENST00000647978.2:c.*3610C>T	ENSP00000497658.1:n.*3610C>T
ENST00000649781.1:c.3713C>T	ENSP00000497203.1:p.Thr1238Ile
ENST00000649781.2:c.3713C>T	ENSP00000497203.1:p.Thr1238Ile
ENST00000685018.1:c.760C>T	ENSP00000510194.1:n.760C>T
ENST00000685018.2:c.*109C>T	ENSP00000510194.2:n.*109C>T
ENST00000687278.1:c.1683C>T	ENSP00000509593.1:n.1683C>T
ENST00000687278.2:c.*549C>T	ENSP00000509593.2:n.*549C>T
ENST00000689011.1:c.478C>T
ENST00000699585.1:c.*105C>T	ENSP00000514456.1:n.*105C>T
ENST00000699598.1:c.3896C>T	ENSP00000514467.1:p.Thr1299Ile
ENST00000699599.1:c.*109C>T	ENSP00000514468.1:n.*109C>T
ENST00000699600.1:c.*557C>T	ENSP00000514469.1:n.*557C>T
ENST00000699601.1:c.*2271C>T	ENSP00000514470.1:n.*2271C>T
ENST00000699602.1:c.3890C>T	ENSP00000514471.1:p.Thr1297Ile
ENST00000699604.1:c.*3720C>T	ENSP00000514472.1:n.*3720C>T
ENST00000699605.1:c.3470C>T	ENSP00000514473.1:p.Thr1157Ile
ENST00000699606.1:n.2064C>T
XM_011515751.1:c.3986C>T	XP_011514053.1:p.Thr1329Ile
XM_011515752.1:c.3986C>T	XP_011514054.1:p.Thr1329Ile
XM_011515753.1:c.3653C>T	XP_011514055.1:p.Thr1218Ile
XM_011515754.1:c.3653C>T	XP_011514056.1:p.Thr1218Ile