Canonical Allele Identifier: CA1737387253

Gene: CFTR

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117611708G= , CM000669.2:g.117611708G=	GRCh38
NC_000007.13:g.117251762G= , CM000669.1:g.117251762G=	GRCh37
NC_000007.12:g.117038998G=	NCBI36
NG_016465.4:g.150925G= , LRG_663:g.150925G=

Transcript Alleles

HGVS	Amino-acid change
ENST00000647720.2:c.3267G=	ENSP00000497673.2:p.Trp1089=
ENST00000647978.2:c.*2981G=	ENSP00000497658.1:n.*2981G=
ENST00000649781.2:c.3084G=	ENSP00000497203.1:p.Trp1028=
ENST00000685018.2:c.3267G=	ENSP00000510194.2:p.Trp1089=
ENST00000687278.2:c.3267G=	ENSP00000509593.2:p.Trp1089=
ENST00000699585.1:c.3267G=	ENSP00000514456.1:p.Trp1089=
ENST00000699598.1:c.3267G=	ENSP00000514467.1:p.Trp1089=
ENST00000699599.1:c.3267G=	ENSP00000514468.1:p.Trp1089=
ENST00000699600.1:c.3267G=	ENSP00000514469.1:p.Trp1089=
ENST00000699601.1:c.*1567G=	ENSP00000514470.1:n.*1567G=
ENST00000699602.1:c.3267G=	ENSP00000514471.1:p.Trp1089=
ENST00000699604.1:c.*3091G=	ENSP00000514472.1:n.*3091G=
ENST00000699605.1:c.2841G=	ENSP00000514473.1:p.Trp947=
ENST00000685018.1:c.15G=	ENSP00000510194.1:p.Trp5=
ENST00000687278.1:c.858G=	ENSP00000509593.1:p.Trp286=
ENST00000003084.11:c.3267G= MANE Select	ENSP00000003084.6:p.Trp1089=
ENST00000647720.1:c.917G=
ENST00000648260.1:c.2049G=	ENSP00000497957.1:p.Trp683=
ENST00000649406.1:c.3084G=	ENSP00000497965.1:p.Trp1028=
ENST00000649781.1:c.3084G=	ENSP00000497203.1:p.Trp1028=
ENST00000003084.10:c.3267G=	ENSP00000003084.6:p.Trp1089=
ENST00000426809.5:c.3177G=	ENSP00000389119.1:p.Trp1059=
ENST00000468795.1:c.92G=
NM_000492.3:c.3267G= , LRG_663t1:c.3267G=	NP_000483.3:p.Trp1089=
XM_011515751.1:c.3357G=	XP_011514053.1:p.Trp1119=
XM_011515752.1:c.3357G=	XP_011514054.1:p.Trp1119=
XM_011515753.1:c.3024G=	XP_011514055.1:p.Trp1008=
XM_011515754.1:c.3024G=	XP_011514056.1:p.Trp1008=
NM_000492.4:c.3267G= MANE Select	NP_000483.3:p.Trp1089=