Canonical Allele Identifier: CA1737398635

Gene: CFTR

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117627586C= , CM000669.2:g.117627586C=	GRCh38
NC_000007.13:g.117267640C= , CM000669.1:g.117267640C=	GRCh37
NC_000007.12:g.117054876C=	NCBI36
NG_016465.4:g.166803C= , LRG_663:g.166803C=

Transcript Alleles

HGVS	Amino-acid change
ENST00000647720.2:c.3517+16C=	ENSP00000497673.2:n.3517+16C=
ENST00000647978.2:c.*3247C=	ENSP00000497658.1:n.*3247C=
ENST00000649781.2:c.3350C=	ENSP00000497203.1:p.Ser1117=
ENST00000685018.2:c.3533C=	ENSP00000510194.2:p.Ser1178=
ENST00000687278.2:c.*186C=	ENSP00000509593.2:n.*186C=
ENST00000699585.1:c.3517+16C=	ENSP00000514456.1:n.3517+16C=
ENST00000699598.1:c.3533C=	ENSP00000514467.1:p.Ser1178=
ENST00000699599.1:c.3533C=	ENSP00000514468.1:p.Ser1178=
ENST00000699600.1:c.*194C=	ENSP00000514469.1:n.*194C=
ENST00000699601.1:c.*1908C=	ENSP00000514470.1:n.*1908C=
ENST00000699602.1:c.3527C=	ENSP00000514471.1:p.Ser1176=
ENST00000699604.1:c.*3357C=	ENSP00000514472.1:n.*3357C=
ENST00000699605.1:c.3107C=	ENSP00000514473.1:p.Ser1036=
ENST00000685018.1:c.281C=	ENSP00000510194.1:p.Ser94=
ENST00000687278.1:c.1320C=	ENSP00000509593.1:n.1320C=
ENST00000689011.1:c.115C=
ENST00000003084.11:c.3533C= MANE Select	ENSP00000003084.6:p.Ser1178=
ENST00000647720.1:c.1167+16C=
ENST00000648260.1:c.2315C=	ENSP00000497957.1:p.Ser772=
ENST00000649406.1:c.3350C=	ENSP00000497965.1:p.Ser1117=
ENST00000649781.1:c.3350C=	ENSP00000497203.1:p.Ser1117=
ENST00000003084.10:c.3533C=	ENSP00000003084.6:p.Ser1178=
ENST00000426809.5:c.3443C=	ENSP00000389119.1:p.Ser1148=
ENST00000468795.1:c.358C=
NM_000492.3:c.3533C= , LRG_663t1:c.3533C=	NP_000483.3:p.Ser1178=
XM_011515751.1:c.3623C=	XP_011514053.1:p.Ser1208=
XM_011515752.1:c.3623C=	XP_011514054.1:p.Ser1208=
XM_011515753.1:c.3290C=	XP_011514055.1:p.Ser1097=
XM_011515754.1:c.3290C=	XP_011514056.1:p.Ser1097=
NM_000492.4:c.3533C= MANE Select	NP_000483.3:p.Ser1178=