Canonical Allele Identifier: CA457230829

Gene: CFTR

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117665510A>G , CM000669.2:g.117665510A>G	GRCh38
NC_000007.13:g.117305564A>G , CM000669.1:g.117305564A>G	GRCh37
NC_000007.12:g.117092800A>G	NCBI36
NG_016465.4:g.204727A>G , LRG_663:g.204727A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_000492.4:c.4188A>G MANE Select	NP_000483.3:p.Thr1396=
ENST00000003084.11:c.4188A>G MANE Select	ENSP00000003084.6:p.Thr1396=
NM_000492.3:c.4188A>G , LRG_663t1:c.4188A>G	NP_000483.3:p.Thr1396=
ENST00000003084.10:c.4188A>G	ENSP00000003084.6:p.Thr1396=
ENST00000426809.5:c.4098A>G	ENSP00000389119.1:p.Thr1366=
ENST00000600166.1:c.314A>G
ENST00000647720.1:c.1638A>G
ENST00000647720.2:c.*397A>G	ENSP00000497673.2:n.*397A>G
ENST00000647978.2:c.*3902A>G	ENSP00000497658.1:n.*3902A>G
ENST00000649781.1:c.4005A>G	ENSP00000497203.1:p.Thr1335=
ENST00000649781.2:c.4005A>G	ENSP00000497203.1:p.Thr1335=
ENST00000685018.1:c.1052A>G	ENSP00000510194.1:n.1052A>G
ENST00000685018.2:c.*401A>G	ENSP00000510194.2:n.*401A>G
ENST00000687278.1:c.1975A>G	ENSP00000509593.1:n.1975A>G
ENST00000687278.2:c.*841A>G	ENSP00000509593.2:n.*841A>G
ENST00000689011.1:c.770A>G
ENST00000699585.1:c.*397A>G	ENSP00000514456.1:n.*397A>G
ENST00000699598.1:c.4188A>G	ENSP00000514467.1:p.Thr1396=
ENST00000699599.1:c.*401A>G	ENSP00000514468.1:n.*401A>G
ENST00000699600.1:c.*849A>G	ENSP00000514469.1:n.*849A>G
ENST00000699601.1:c.*2563A>G	ENSP00000514470.1:n.*2563A>G
ENST00000699602.1:c.4182A>G	ENSP00000514471.1:p.Thr1394=
ENST00000699604.1:c.*4012A>G	ENSP00000514472.1:n.*4012A>G
ENST00000699605.1:c.3762A>G	ENSP00000514473.1:p.Thr1254=
ENST00000699606.1:n.2356A>G
XM_011515751.1:c.4278A>G	XP_011514053.1:p.Thr1426=
XM_011515752.1:c.4278A>G	XP_011514054.1:p.Thr1426=
XM_011515753.1:c.3945A>G	XP_011514055.1:p.Thr1315=
XM_011515754.1:c.3945A>G	XP_011514056.1:p.Thr1315=