Canonical Allele Identifier: CA1737411072

Gene: CFTR

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117652851A= , CM000669.2:g.117652851A=	GRCh38
NC_000007.13:g.117292905A= , CM000669.1:g.117292905A=	GRCh37
NC_000007.12:g.117080141A=	NCBI36
NG_016465.4:g.192068A= , LRG_663:g.192068A=

Transcript Alleles

HGVS	Amino-acid Change
NM_000492.4:c.3883A= MANE Select	NP_000483.3:p.Ile1295=
ENST00000003084.11:c.3883A= MANE Select	ENSP00000003084.6:p.Ile1295=
NM_000492.3:c.3883A= , LRG_663t1:c.3883A=	NP_000483.3:p.Ile1295=
ENST00000003084.10:c.3883A=	ENSP00000003084.6:p.Ile1295=
ENST00000426809.5:c.3793A=	ENSP00000389119.1:p.Ile1265=
ENST00000600166.1:c.9A=
ENST00000647720.1:c.1333A=
ENST00000647720.2:c.*92A=	ENSP00000497673.2:n.*92A=
ENST00000647978.2:c.*3597A=	ENSP00000497658.1:n.*3597A=
ENST00000649781.1:c.3700A=	ENSP00000497203.1:p.Ile1234=
ENST00000649781.2:c.3700A=	ENSP00000497203.1:p.Ile1234=
ENST00000685018.1:c.747A=	ENSP00000510194.1:n.747A=
ENST00000685018.2:c.*96A=	ENSP00000510194.2:n.*96A=
ENST00000687278.1:c.1670A=	ENSP00000509593.1:n.1670A=
ENST00000687278.2:c.*536A=	ENSP00000509593.2:n.*536A=
ENST00000689011.1:c.465A=
ENST00000699585.1:c.*92A=	ENSP00000514456.1:n.*92A=
ENST00000699598.1:c.3883A=	ENSP00000514467.1:p.Ile1295=
ENST00000699599.1:c.*96A=	ENSP00000514468.1:n.*96A=
ENST00000699600.1:c.*544A=	ENSP00000514469.1:n.*544A=
ENST00000699601.1:c.*2258A=	ENSP00000514470.1:n.*2258A=
ENST00000699602.1:c.3877A=	ENSP00000514471.1:p.Ile1293=
ENST00000699604.1:c.*3707A=	ENSP00000514472.1:n.*3707A=
ENST00000699605.1:c.3457A=	ENSP00000514473.1:p.Ile1153=
ENST00000699606.1:n.2051A=
XM_011515751.1:c.3973A=	XP_011514053.1:p.Ile1325=
XM_011515752.1:c.3973A=	XP_011514054.1:p.Ile1325=
XM_011515753.1:c.3640A=	XP_011514055.1:p.Ile1214=
XM_011515754.1:c.3640A=	XP_011514056.1:p.Ile1214=