Canonical Allele Identifier: CA1737392040

Gene: CFTR

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117614651G= , CM000669.2:g.117614651G=	GRCh38
NC_000007.13:g.117254705G= , CM000669.1:g.117254705G=	GRCh37
NC_000007.12:g.117041941G=	NCBI36
NG_016465.4:g.153868G= , LRG_663:g.153868G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647720.2:c.3406G=	ENSP00000497673.2:p.Ala1136=
ENST00000647978.2:c.*3120G=	ENSP00000497658.1:n.*3120G=
ENST00000649781.2:c.3223G=	ENSP00000497203.1:p.Ala1075=
ENST00000685018.2:c.3406G=	ENSP00000510194.2:p.Ala1136=
ENST00000687278.2:c.3406G=	ENSP00000509593.2:p.Ala1136=
ENST00000699585.1:c.3406G=	ENSP00000514456.1:p.Ala1136=
ENST00000699598.1:c.3406G=	ENSP00000514467.1:p.Ala1136=
ENST00000699599.1:c.3406G=	ENSP00000514468.1:p.Ala1136=
ENST00000699600.1:c.3406G=	ENSP00000514469.1:p.Ala1136=
ENST00000699601.1:c.*1781G=	ENSP00000514470.1:n.*1781G=
ENST00000699602.1:c.3400G=	ENSP00000514471.1:p.Ala1134=
ENST00000699604.1:c.*3230G=	ENSP00000514472.1:n.*3230G=
ENST00000699605.1:c.2980G=	ENSP00000514473.1:p.Ala994=
ENST00000685018.1:c.154G=	ENSP00000510194.1:p.Ala52=
ENST00000687278.1:c.997G=	ENSP00000509593.1:p.Ala333=
ENST00000003084.11:c.3406G= MANE Select	ENSP00000003084.6:p.Ala1136=
ENST00000647720.1:c.1056G=
ENST00000648260.1:c.2188G=	ENSP00000497957.1:p.Ala730=
ENST00000649406.1:c.3223G=	ENSP00000497965.1:p.Ala1075=
ENST00000649781.1:c.3223G=	ENSP00000497203.1:p.Ala1075=
ENST00000003084.10:c.3406G=	ENSP00000003084.6:p.Ala1136=
ENST00000426809.5:c.3316G=	ENSP00000389119.1:p.Ala1106=
ENST00000468795.1:c.231G=
NM_000492.3:c.3406G= , LRG_663t1:c.3406G=	NP_000483.3:p.Ala1136=
XM_011515751.1:c.3496G=	XP_011514053.1:p.Ala1166=
XM_011515752.1:c.3496G=	XP_011514054.1:p.Ala1166=
XM_011515753.1:c.3163G=	XP_011514055.1:p.Ala1055=
XM_011515754.1:c.3163G=	XP_011514056.1:p.Ala1055=
NM_000492.4:c.3406G= MANE Select	NP_000483.3:p.Ala1136=