Canonical Allele Identifier: CA1737398618

Gene: CFTR

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117627551C= , CM000669.2:g.117627551C=	GRCh38
NC_000007.13:g.117267605C= , CM000669.1:g.117267605C=	GRCh37
NC_000007.12:g.117054841C=	NCBI36
NG_016465.4:g.166768C= , LRG_663:g.166768C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647720.2:c.3498C=	ENSP00000497673.2:p.Phe1166=
ENST00000647978.2:c.*3212C=	ENSP00000497658.1:n.*3212C=
ENST00000649781.2:c.3315C=	ENSP00000497203.1:p.Phe1105=
ENST00000685018.2:c.3498C=	ENSP00000510194.2:p.Phe1166=
ENST00000687278.2:c.*151C=	ENSP00000509593.2:n.*151C=
ENST00000699585.1:c.3498C=	ENSP00000514456.1:p.Phe1166=
ENST00000699598.1:c.3498C=	ENSP00000514467.1:p.Phe1166=
ENST00000699599.1:c.3498C=	ENSP00000514468.1:p.Phe1166=
ENST00000699600.1:c.*159C=	ENSP00000514469.1:n.*159C=
ENST00000699601.1:c.*1873C=	ENSP00000514470.1:n.*1873C=
ENST00000699602.1:c.3492C=	ENSP00000514471.1:p.Phe1164=
ENST00000699604.1:c.*3322C=	ENSP00000514472.1:n.*3322C=
ENST00000699605.1:c.3072C=	ENSP00000514473.1:p.Phe1024=
ENST00000685018.1:c.246C=	ENSP00000510194.1:p.Phe82=
ENST00000687278.1:c.1285C=	ENSP00000509593.1:n.1285C=
ENST00000689011.1:c.80C=
ENST00000003084.11:c.3498C= MANE Select	ENSP00000003084.6:p.Phe1166=
ENST00000647720.1:c.1148C=
ENST00000648260.1:c.2280C=	ENSP00000497957.1:p.Phe760=
ENST00000649406.1:c.3315C=	ENSP00000497965.1:p.Phe1105=
ENST00000649781.1:c.3315C=	ENSP00000497203.1:p.Phe1105=
ENST00000003084.10:c.3498C=	ENSP00000003084.6:p.Phe1166=
ENST00000426809.5:c.3408C=	ENSP00000389119.1:p.Phe1136=
ENST00000468795.1:c.323C=
NM_000492.3:c.3498C= , LRG_663t1:c.3498C=	NP_000483.3:p.Phe1166=
XM_011515751.1:c.3588C=	XP_011514053.1:p.Phe1196=
XM_011515752.1:c.3588C=	XP_011514054.1:p.Phe1196=
XM_011515753.1:c.3255C=	XP_011514055.1:p.Phe1085=
XM_011515754.1:c.3255C=	XP_011514056.1:p.Phe1085=
NM_000492.4:c.3498C= MANE Select	NP_000483.3:p.Phe1166=