Canonical Allele Identifier: CA1737387569

Gene: CFTR

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117611760T= , CM000669.2:g.117611760T=	GRCh38
NC_000007.13:g.117251814T= , CM000669.1:g.117251814T=	GRCh37
NC_000007.12:g.117039050T=	NCBI36
NG_016465.4:g.150977T= , LRG_663:g.150977T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647720.2:c.3319T=	ENSP00000497673.2:p.Phe1107=
ENST00000647978.2:c.*3033T=	ENSP00000497658.1:n.*3033T=
ENST00000649781.2:c.3136T=	ENSP00000497203.1:p.Phe1046=
ENST00000685018.2:c.3319T=	ENSP00000510194.2:p.Phe1107=
ENST00000687278.2:c.3319T=	ENSP00000509593.2:p.Phe1107=
ENST00000699585.1:c.3319T=	ENSP00000514456.1:p.Phe1107=
ENST00000699598.1:c.3319T=	ENSP00000514467.1:p.Phe1107=
ENST00000699599.1:c.3319T=	ENSP00000514468.1:p.Phe1107=
ENST00000699600.1:c.3319T=	ENSP00000514469.1:p.Phe1107=
ENST00000699601.1:c.*1619T=	ENSP00000514470.1:n.*1619T=
ENST00000699602.1:c.3319T=	ENSP00000514471.1:p.Phe1107=
ENST00000699604.1:c.*3143T=	ENSP00000514472.1:n.*3143T=
ENST00000699605.1:c.2893T=	ENSP00000514473.1:p.Phe965=
ENST00000685018.1:c.67T=	ENSP00000510194.1:p.Phe23=
ENST00000687278.1:c.910T=	ENSP00000509593.1:p.Phe304=
ENST00000003084.11:c.3319T= MANE Select	ENSP00000003084.6:p.Phe1107=
ENST00000647720.1:c.969T=
ENST00000648260.1:c.2101T=	ENSP00000497957.1:p.Phe701=
ENST00000649406.1:c.3136T=	ENSP00000497965.1:p.Phe1046=
ENST00000649781.1:c.3136T=	ENSP00000497203.1:p.Phe1046=
ENST00000003084.10:c.3319T=	ENSP00000003084.6:p.Phe1107=
ENST00000426809.5:c.3229T=	ENSP00000389119.1:p.Phe1077=
ENST00000468795.1:c.144T=
NM_000492.3:c.3319T= , LRG_663t1:c.3319T=	NP_000483.3:p.Phe1107=
XM_011515751.1:c.3409T=	XP_011514053.1:p.Phe1137=
XM_011515752.1:c.3409T=	XP_011514054.1:p.Phe1137=
XM_011515753.1:c.3076T=	XP_011514055.1:p.Phe1026=
XM_011515754.1:c.3076T=	XP_011514056.1:p.Phe1026=
NM_000492.4:c.3319T= MANE Select	NP_000483.3:p.Phe1107=