Canonical Allele Identifier: CA4451659

Gene: CFTR

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117665519C>G , CM000669.2:g.117665519C>G	GRCh38
NC_000007.13:g.117305573C>G , CM000669.1:g.117305573C>G	GRCh37
NC_000007.12:g.117092809C>G	NCBI36
NG_016465.4:g.204736C>G , LRG_663:g.204736C>G

Transcript Alleles

HGVS	Amino-acid Change
NM_000492.4:c.4197C>G MANE Select	NP_000483.3:p.Leu1399=
ENST00000003084.11:c.4197C>G MANE Select	ENSP00000003084.6:p.Leu1399=
NM_000492.3:c.4197C>G , LRG_663t1:c.4197C>G	NP_000483.3:p.Leu1399=
ENST00000003084.10:c.4197C>G	ENSP00000003084.6:p.Leu1399=
ENST00000426809.5:c.4107C>G	ENSP00000389119.1:p.Leu1369=
ENST00000600166.1:c.323C>G
ENST00000647720.1:c.1647C>G
ENST00000647720.2:c.*406C>G	ENSP00000497673.2:n.*406C>G
ENST00000647978.2:c.*3911C>G	ENSP00000497658.1:n.*3911C>G
ENST00000649781.1:c.4014C>G	ENSP00000497203.1:p.Leu1338=
ENST00000649781.2:c.4014C>G	ENSP00000497203.1:p.Leu1338=
ENST00000685018.1:c.1061C>G	ENSP00000510194.1:n.1061C>G
ENST00000685018.2:c.*410C>G	ENSP00000510194.2:n.*410C>G
ENST00000687278.1:c.1984C>G	ENSP00000509593.1:n.1984C>G
ENST00000687278.2:c.*850C>G	ENSP00000509593.2:n.*850C>G
ENST00000689011.1:c.779C>G
ENST00000699585.1:c.*406C>G	ENSP00000514456.1:n.*406C>G
ENST00000699598.1:c.4197C>G	ENSP00000514467.1:p.Leu1399=
ENST00000699599.1:c.*410C>G	ENSP00000514468.1:n.*410C>G
ENST00000699600.1:c.*858C>G	ENSP00000514469.1:n.*858C>G
ENST00000699601.1:c.*2572C>G	ENSP00000514470.1:n.*2572C>G
ENST00000699602.1:c.4191C>G	ENSP00000514471.1:p.Leu1397=
ENST00000699604.1:c.*4021C>G	ENSP00000514472.1:n.*4021C>G
ENST00000699605.1:c.3771C>G	ENSP00000514473.1:p.Leu1257=
ENST00000699606.1:n.2365C>G
XM_011515751.1:c.4287C>G	XP_011514053.1:p.Leu1429=
XM_011515752.1:c.4287C>G	XP_011514054.1:p.Leu1429=
XM_011515753.1:c.3954C>G	XP_011514055.1:p.Leu1318=
XM_011515754.1:c.3954C>G	XP_011514056.1:p.Leu1318=