Canonical Allele Identifier: CA1737404817

Gene: CFTR

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117642588C= , CM000669.2:g.117642588C=	GRCh38
NC_000007.13:g.117282642C= , CM000669.1:g.117282642C=	GRCh37
NC_000007.12:g.117069878C=	NCBI36
NG_016465.4:g.181805C= , LRG_663:g.181805C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647720.2:c.*77C=	ENSP00000497673.2:n.*77C=
ENST00000647978.2:c.*3582C=	ENSP00000497658.1:n.*3582C=
ENST00000649781.2:c.3685C=	ENSP00000497203.1:p.Pro1229=
ENST00000685018.2:c.3868C=	ENSP00000510194.2:p.Pro1290=
ENST00000687278.2:c.*521C=	ENSP00000509593.2:n.*521C=
ENST00000699585.1:c.*77C=	ENSP00000514456.1:n.*77C=
ENST00000699598.1:c.3868C=	ENSP00000514467.1:p.Pro1290=
ENST00000699599.1:c.3868C=	ENSP00000514468.1:p.Pro1290=
ENST00000699600.1:c.*529C=	ENSP00000514469.1:n.*529C=
ENST00000699601.1:c.*2243C=	ENSP00000514470.1:n.*2243C=
ENST00000699602.1:c.3862C=	ENSP00000514471.1:p.Pro1288=
ENST00000699604.1:c.*3692C=	ENSP00000514472.1:n.*3692C=
ENST00000699605.1:c.3442C=	ENSP00000514473.1:p.Pro1148=
ENST00000685018.1:c.616C=	ENSP00000510194.1:p.Pro206=
ENST00000687278.1:c.1655C=	ENSP00000509593.1:n.1655C=
ENST00000689011.1:c.450C=
ENST00000003084.11:c.3868C= MANE Select	ENSP00000003084.6:p.Pro1290=
ENST00000647720.1:c.1318C=
ENST00000649781.1:c.3685C=	ENSP00000497203.1:p.Pro1229=
ENST00000003084.10:c.3868C=	ENSP00000003084.6:p.Pro1290=
ENST00000426809.5:c.3778C=	ENSP00000389119.1:p.Pro1260=
NM_000492.3:c.3868C= , LRG_663t1:c.3868C=	NP_000483.3:p.Pro1290=
XM_011515751.1:c.3958C=	XP_011514053.1:p.Pro1320=
XM_011515752.1:c.3958C=	XP_011514054.1:p.Pro1320=
XM_011515753.1:c.3625C=	XP_011514055.1:p.Pro1209=
XM_011515754.1:c.3625C=	XP_011514056.1:p.Pro1209=
NM_000492.4:c.3868C= MANE Select	NP_000483.3:p.Pro1290=