Canonical Allele Identifier: CA1737404816

Gene: CFTR

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117642586T= , CM000669.2:g.117642586T=	GRCh38
NC_000007.13:g.117282640T= , CM000669.1:g.117282640T=	GRCh37
NC_000007.12:g.117069876T=	NCBI36
NG_016465.4:g.181803T= , LRG_663:g.181803T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647720.2:c.*75T=	ENSP00000497673.2:n.*75T=
ENST00000647978.2:c.*3580T=	ENSP00000497658.1:n.*3580T=
ENST00000649781.2:c.3683T=	ENSP00000497203.1:p.Ile1228=
ENST00000685018.2:c.3866T=	ENSP00000510194.2:p.Ile1289=
ENST00000687278.2:c.*519T=	ENSP00000509593.2:n.*519T=
ENST00000699585.1:c.*75T=	ENSP00000514456.1:n.*75T=
ENST00000699598.1:c.3866T=	ENSP00000514467.1:p.Ile1289=
ENST00000699599.1:c.3866T=	ENSP00000514468.1:p.Ile1289=
ENST00000699600.1:c.*527T=	ENSP00000514469.1:n.*527T=
ENST00000699601.1:c.*2241T=	ENSP00000514470.1:n.*2241T=
ENST00000699602.1:c.3860T=	ENSP00000514471.1:p.Ile1287=
ENST00000699604.1:c.*3690T=	ENSP00000514472.1:n.*3690T=
ENST00000699605.1:c.3440T=	ENSP00000514473.1:p.Ile1147=
ENST00000685018.1:c.614T=	ENSP00000510194.1:p.Ile205=
ENST00000687278.1:c.1653T=	ENSP00000509593.1:n.1653T=
ENST00000689011.1:c.448T=
ENST00000003084.11:c.3866T= MANE Select	ENSP00000003084.6:p.Ile1289=
ENST00000647720.1:c.1316T=
ENST00000649781.1:c.3683T=	ENSP00000497203.1:p.Ile1228=
ENST00000003084.10:c.3866T=	ENSP00000003084.6:p.Ile1289=
ENST00000426809.5:c.3776T=	ENSP00000389119.1:p.Ile1259=
NM_000492.3:c.3866T= , LRG_663t1:c.3866T=	NP_000483.3:p.Ile1289=
XM_011515751.1:c.3956T=	XP_011514053.1:p.Ile1319=
XM_011515752.1:c.3956T=	XP_011514054.1:p.Ile1319=
XM_011515753.1:c.3623T=	XP_011514055.1:p.Ile1208=
XM_011515754.1:c.3623T=	XP_011514056.1:p.Ile1208=
NM_000492.4:c.3866T= MANE Select	NP_000483.3:p.Ile1289=