Canonical Allele Identifier: CA1737404781

Gene: CFTR

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117642528G= , CM000669.2:g.117642528G=	GRCh38
NC_000007.13:g.117282582G= , CM000669.1:g.117282582G=	GRCh37
NC_000007.12:g.117069818G=	NCBI36
NG_016465.4:g.181745G= , LRG_663:g.181745G=

Transcript Alleles

HGVS	Amino-acid Change
NM_000492.4:c.3808G= MANE Select	NP_000483.3:p.Asp1270=
ENST00000003084.11:c.3808G= MANE Select	ENSP00000003084.6:p.Asp1270=
NM_000492.3:c.3808G= , LRG_663t1:c.3808G=	NP_000483.3:p.Asp1270=
ENST00000003084.10:c.3808G=	ENSP00000003084.6:p.Asp1270=
ENST00000426809.5:c.3718G=	ENSP00000389119.1:p.Asp1240=
ENST00000647720.1:c.1258G=
ENST00000647720.2:c.*17G=	ENSP00000497673.2:n.*17G=
ENST00000647978.2:c.*3522G=	ENSP00000497658.1:n.*3522G=
ENST00000649781.1:c.3625G=	ENSP00000497203.1:p.Asp1209=
ENST00000649781.2:c.3625G=	ENSP00000497203.1:p.Asp1209=
ENST00000685018.1:c.556G=	ENSP00000510194.1:p.Asp186=
ENST00000685018.2:c.3808G=	ENSP00000510194.2:p.Asp1270=
ENST00000687278.1:c.1595G=	ENSP00000509593.1:n.1595G=
ENST00000687278.2:c.*461G=	ENSP00000509593.2:n.*461G=
ENST00000689011.1:c.390G=
ENST00000699585.1:c.*17G=	ENSP00000514456.1:n.*17G=
ENST00000699598.1:c.3808G=	ENSP00000514467.1:p.Asp1270=
ENST00000699599.1:c.3808G=	ENSP00000514468.1:p.Asp1270=
ENST00000699600.1:c.*469G=	ENSP00000514469.1:n.*469G=
ENST00000699601.1:c.*2183G=	ENSP00000514470.1:n.*2183G=
ENST00000699602.1:c.3802G=	ENSP00000514471.1:p.Asp1268=
ENST00000699604.1:c.*3632G=	ENSP00000514472.1:n.*3632G=
ENST00000699605.1:c.3382G=	ENSP00000514473.1:p.Asp1128=
XM_011515751.1:c.3898G=	XP_011514053.1:p.Asp1300=
XM_011515752.1:c.3898G=	XP_011514054.1:p.Asp1300=
XM_011515753.1:c.3565G=	XP_011514055.1:p.Asp1189=
XM_011515754.1:c.3565G=	XP_011514056.1:p.Asp1189=