Canonical Allele Identifier: CA1737398619

Gene: CFTR

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117627552A= , CM000669.2:g.117627552A=	GRCh38
NC_000007.13:g.117267606A= , CM000669.1:g.117267606A=	GRCh37
NC_000007.12:g.117054842A=	NCBI36
NG_016465.4:g.166769A= , LRG_663:g.166769A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647720.2:c.3499A=	ENSP00000497673.2:p.Ile1167=
ENST00000647978.2:c.*3213A=	ENSP00000497658.1:n.*3213A=
ENST00000649781.2:c.3316A=	ENSP00000497203.1:p.Ile1106=
ENST00000685018.2:c.3499A=	ENSP00000510194.2:p.Ile1167=
ENST00000687278.2:c.*152A=	ENSP00000509593.2:n.*152A=
ENST00000699585.1:c.3499A=	ENSP00000514456.1:p.Ile1167=
ENST00000699598.1:c.3499A=	ENSP00000514467.1:p.Ile1167=
ENST00000699599.1:c.3499A=	ENSP00000514468.1:p.Ile1167=
ENST00000699600.1:c.*160A=	ENSP00000514469.1:n.*160A=
ENST00000699601.1:c.*1874A=	ENSP00000514470.1:n.*1874A=
ENST00000699602.1:c.3493A=	ENSP00000514471.1:p.Ile1165=
ENST00000699604.1:c.*3323A=	ENSP00000514472.1:n.*3323A=
ENST00000699605.1:c.3073A=	ENSP00000514473.1:p.Ile1025=
ENST00000685018.1:c.247A=	ENSP00000510194.1:p.Ile83=
ENST00000687278.1:c.1286A=	ENSP00000509593.1:n.1286A=
ENST00000689011.1:c.81A=
ENST00000003084.11:c.3499A= MANE Select	ENSP00000003084.6:p.Ile1167=
ENST00000647720.1:c.1149A=
ENST00000648260.1:c.2281A=	ENSP00000497957.1:p.Ile761=
ENST00000649406.1:c.3316A=	ENSP00000497965.1:p.Ile1106=
ENST00000649781.1:c.3316A=	ENSP00000497203.1:p.Ile1106=
ENST00000003084.10:c.3499A=	ENSP00000003084.6:p.Ile1167=
ENST00000426809.5:c.3409A=	ENSP00000389119.1:p.Ile1137=
ENST00000468795.1:c.324A=
NM_000492.3:c.3499A= , LRG_663t1:c.3499A=	NP_000483.3:p.Ile1167=
XM_011515751.1:c.3589A=	XP_011514053.1:p.Ile1197=
XM_011515752.1:c.3589A=	XP_011514054.1:p.Ile1197=
XM_011515753.1:c.3256A=	XP_011514055.1:p.Ile1086=
XM_011515754.1:c.3256A=	XP_011514056.1:p.Ile1086=
NM_000492.4:c.3499A= MANE Select	NP_000483.3:p.Ile1167=