Canonical Allele Identifier: CA1737404758

Gene: CFTR

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117642487C= , CM000669.2:g.117642487C=	GRCh38
NC_000007.13:g.117282541C= , CM000669.1:g.117282541C=	GRCh37
NC_000007.12:g.117069777C=	NCBI36
NG_016465.4:g.181704C= , LRG_663:g.181704C=

Transcript Alleles

HGVS	Amino-acid change
ENST00000647720.2:c.3567C=	ENSP00000497673.2:p.Ser1189=
ENST00000647978.2:c.*3481C=	ENSP00000497658.1:n.*3481C=
ENST00000649781.2:c.3584C=	ENSP00000497203.1:p.Ala1195=
ENST00000685018.2:c.3767C=	ENSP00000510194.2:p.Ala1256=
ENST00000687278.2:c.*420C=	ENSP00000509593.2:n.*420C=
ENST00000699585.1:c.3567C=	ENSP00000514456.1:p.Ser1189=
ENST00000699598.1:c.3767C=	ENSP00000514467.1:p.Ala1256=
ENST00000699599.1:c.3767C=	ENSP00000514468.1:p.Ala1256=
ENST00000699600.1:c.*428C=	ENSP00000514469.1:n.*428C=
ENST00000699601.1:c.*2142C=	ENSP00000514470.1:n.*2142C=
ENST00000699602.1:c.3761C=	ENSP00000514471.1:p.Ala1254=
ENST00000699604.1:c.*3591C=	ENSP00000514472.1:n.*3591C=
ENST00000699605.1:c.3341C=	ENSP00000514473.1:p.Ala1114=
ENST00000685018.1:c.515C=	ENSP00000510194.1:p.Ala172=
ENST00000687278.1:c.1554C=	ENSP00000509593.1:n.1554C=
ENST00000689011.1:c.349C=
ENST00000003084.11:c.3767C= MANE Select	ENSP00000003084.6:p.Ala1256=
ENST00000647720.1:c.1217C=
ENST00000649781.1:c.3584C=	ENSP00000497203.1:p.Ala1195=
ENST00000003084.10:c.3767C=	ENSP00000003084.6:p.Ala1256=
ENST00000426809.5:c.3677C=	ENSP00000389119.1:p.Ala1226=
NM_000492.3:c.3767C= , LRG_663t1:c.3767C=	NP_000483.3:p.Ala1256=
XM_011515751.1:c.3857C=	XP_011514053.1:p.Ala1286=
XM_011515752.1:c.3857C=	XP_011514054.1:p.Ala1286=
XM_011515753.1:c.3524C=	XP_011514055.1:p.Ala1175=
XM_011515754.1:c.3524C=	XP_011514056.1:p.Ala1175=
NM_000492.4:c.3767C= MANE Select	NP_000483.3:p.Ala1256=