Canonical Allele Identifier: CA1737392247

Gene: CFTR

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117614697T= , CM000669.2:g.117614697T=	GRCh38
NC_000007.13:g.117254751T= , CM000669.1:g.117254751T=	GRCh37
NC_000007.12:g.117041987T=	NCBI36
NG_016465.4:g.153914T= , LRG_663:g.153914T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647720.2:c.3452T=	ENSP00000497673.2:p.Ile1151=
ENST00000647978.2:c.*3166T=	ENSP00000497658.1:n.*3166T=
ENST00000649781.2:c.3269T=	ENSP00000497203.1:p.Ile1090=
ENST00000685018.2:c.3452T=	ENSP00000510194.2:p.Ile1151=
ENST00000687278.2:c.3452T=	ENSP00000509593.2:p.Ile1151=
ENST00000699585.1:c.3452T=	ENSP00000514456.1:p.Ile1151=
ENST00000699598.1:c.3452T=	ENSP00000514467.1:p.Ile1151=
ENST00000699599.1:c.3452T=	ENSP00000514468.1:p.Ile1151=
ENST00000699600.1:c.3452T=	ENSP00000514469.1:p.Ile1151=
ENST00000699601.1:c.*1827T=	ENSP00000514470.1:n.*1827T=
ENST00000699602.1:c.3446T=	ENSP00000514471.1:p.Ile1149=
ENST00000699604.1:c.*3276T=	ENSP00000514472.1:n.*3276T=
ENST00000699605.1:c.3026T=	ENSP00000514473.1:p.Ile1009=
ENST00000685018.1:c.200T=	ENSP00000510194.1:p.Ile67=
ENST00000687278.1:c.1043T=	ENSP00000509593.1:p.Ile348=
ENST00000689011.1:c.34T=
ENST00000003084.11:c.3452T= MANE Select	ENSP00000003084.6:p.Ile1151=
ENST00000647720.1:c.1102T=
ENST00000648260.1:c.2234T=	ENSP00000497957.1:p.Ile745=
ENST00000649406.1:c.3269T=	ENSP00000497965.1:p.Ile1090=
ENST00000649781.1:c.3269T=	ENSP00000497203.1:p.Ile1090=
ENST00000003084.10:c.3452T=	ENSP00000003084.6:p.Ile1151=
ENST00000426809.5:c.3362T=	ENSP00000389119.1:p.Ile1121=
ENST00000468795.1:c.277T=
NM_000492.3:c.3452T= , LRG_663t1:c.3452T=	NP_000483.3:p.Ile1151=
XM_011515751.1:c.3542T=	XP_011514053.1:p.Ile1181=
XM_011515752.1:c.3542T=	XP_011514054.1:p.Ile1181=
XM_011515753.1:c.3209T=	XP_011514055.1:p.Ile1070=
XM_011515754.1:c.3209T=	XP_011514056.1:p.Ile1070=
NM_000492.4:c.3452T= MANE Select	NP_000483.3:p.Ile1151=