Canonical Allele Identifier: CA1737411167

Gene: CFTR

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117652877C= , CM000669.2:g.117652877C=	GRCh38
NC_000007.13:g.117292931C= , CM000669.1:g.117292931C=	GRCh37
NC_000007.12:g.117080167C=	NCBI36
NG_016465.4:g.192094C= , LRG_663:g.192094C=

Transcript Alleles

HGVS	Amino-acid Change
NM_000492.4:c.3909C= MANE Select	NP_000483.3:p.Asn1303=
ENST00000003084.11:c.3909C= MANE Select	ENSP00000003084.6:p.Asn1303=
NM_000492.3:c.3909C= , LRG_663t1:c.3909C=	NP_000483.3:p.Asn1303=
ENST00000003084.10:c.3909C=	ENSP00000003084.6:p.Asn1303=
ENST00000426809.5:c.3819C=	ENSP00000389119.1:p.Asn1273=
ENST00000600166.1:c.35C=
ENST00000647720.1:c.1359C=
ENST00000647720.2:c.*118C=	ENSP00000497673.2:n.*118C=
ENST00000647978.2:c.*3623C=	ENSP00000497658.1:n.*3623C=
ENST00000649781.1:c.3726C=	ENSP00000497203.1:p.Asn1242=
ENST00000649781.2:c.3726C=	ENSP00000497203.1:p.Asn1242=
ENST00000685018.1:c.773C=	ENSP00000510194.1:n.773C=
ENST00000685018.2:c.*122C=	ENSP00000510194.2:n.*122C=
ENST00000687278.1:c.1696C=	ENSP00000509593.1:n.1696C=
ENST00000687278.2:c.*562C=	ENSP00000509593.2:n.*562C=
ENST00000689011.1:c.491C=
ENST00000699585.1:c.*118C=	ENSP00000514456.1:n.*118C=
ENST00000699598.1:c.3909C=	ENSP00000514467.1:p.Asn1303=
ENST00000699599.1:c.*122C=	ENSP00000514468.1:n.*122C=
ENST00000699600.1:c.*570C=	ENSP00000514469.1:n.*570C=
ENST00000699601.1:c.*2284C=	ENSP00000514470.1:n.*2284C=
ENST00000699602.1:c.3903C=	ENSP00000514471.1:p.Asn1301=
ENST00000699604.1:c.*3733C=	ENSP00000514472.1:n.*3733C=
ENST00000699605.1:c.3483C=	ENSP00000514473.1:p.Asn1161=
ENST00000699606.1:n.2077C=
XM_011515751.1:c.3999C=	XP_011514053.1:p.Asn1333=
XM_011515752.1:c.3999C=	XP_011514054.1:p.Asn1333=
XM_011515753.1:c.3666C=	XP_011514055.1:p.Asn1222=
XM_011515754.1:c.3666C=	XP_011514056.1:p.Asn1222=