Canonical Allele Identifier: CA1737398689

Gene: CFTR

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117627676G= , CM000669.2:g.117627676G=	GRCh38
NC_000007.13:g.117267730G= , CM000669.1:g.117267730G=	GRCh37
NC_000007.12:g.117054966G=	NCBI36
NG_016465.4:g.166893G= , LRG_663:g.166893G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647720.2:c.3517+106G=	ENSP00000497673.2:n.3517+106G=
ENST00000647978.2:c.*3337G=	ENSP00000497658.1:n.*3337G=
ENST00000649781.2:c.3440G=	ENSP00000497203.1:p.Gly1147=
ENST00000685018.2:c.3623G=	ENSP00000510194.2:p.Gly1208=
ENST00000687278.2:c.*276G=	ENSP00000509593.2:n.*276G=
ENST00000699585.1:c.3517+106G=	ENSP00000514456.1:n.3517+106G=
ENST00000699598.1:c.3623G=	ENSP00000514467.1:p.Gly1208=
ENST00000699599.1:c.3623G=	ENSP00000514468.1:p.Gly1208=
ENST00000699600.1:c.*284G=	ENSP00000514469.1:n.*284G=
ENST00000699601.1:c.*1998G=	ENSP00000514470.1:n.*1998G=
ENST00000699602.1:c.3617G=	ENSP00000514471.1:p.Gly1206=
ENST00000699604.1:c.*3447G=	ENSP00000514472.1:n.*3447G=
ENST00000699605.1:c.3197G=	ENSP00000514473.1:p.Gly1066=
ENST00000685018.1:c.371G=	ENSP00000510194.1:p.Gly124=
ENST00000687278.1:c.1410G=	ENSP00000509593.1:n.1410G=
ENST00000689011.1:c.205G=
ENST00000003084.11:c.3623G= MANE Select	ENSP00000003084.6:p.Gly1208=
ENST00000647720.1:c.1167+106G=
ENST00000648260.1:c.2405G=	ENSP00000497957.1:p.Gly802=
ENST00000649406.1:c.3440G=	ENSP00000497965.1:p.Gly1147=
ENST00000649781.1:c.3440G=	ENSP00000497203.1:p.Gly1147=
ENST00000003084.10:c.3623G=	ENSP00000003084.6:p.Gly1208=
ENST00000426809.5:c.3533G=	ENSP00000389119.1:p.Gly1178=
ENST00000468795.1:c.448G=
NM_000492.3:c.3623G= , LRG_663t1:c.3623G=	NP_000483.3:p.Gly1208=
XM_011515751.1:c.3713G=	XP_011514053.1:p.Gly1238=
XM_011515752.1:c.3713G=	XP_011514054.1:p.Gly1238=
XM_011515753.1:c.3380G=	XP_011514055.1:p.Gly1127=
XM_011515754.1:c.3380G=	XP_011514056.1:p.Gly1127=
NM_000492.4:c.3623G= MANE Select	NP_000483.3:p.Gly1208=