Canonical Allele Identifier: CA457230269

Gene: CFTR

Linked Data

• MyVariant Identifiers: chr7:g.117304762A>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117664708A>T , CM000669.2:g.117664708A>T	GRCh38
NC_000007.13:g.117304762A>T , CM000669.1:g.117304762A>T	GRCh37
NC_000007.12:g.117091998A>T	NCBI36
NG_016465.4:g.203925A>T , LRG_663:g.203925A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000647720.2:c.*193A>T	ENSP00000497673.2:n.*193A>T
ENST00000647978.2:c.*3698A>T	ENSP00000497658.1:n.*3698A>T
ENST00000649781.2:c.3801A>T	ENSP00000497203.1:p.Ile1267=
ENST00000685018.2:c.*197A>T	ENSP00000510194.2:n.*197A>T
ENST00000687278.2:c.*637A>T	ENSP00000509593.2:n.*637A>T
ENST00000699585.1:c.*193A>T	ENSP00000514456.1:n.*193A>T
ENST00000699598.1:c.3984A>T	ENSP00000514467.1:p.Ile1328=
ENST00000699599.1:c.*197A>T	ENSP00000514468.1:n.*197A>T
ENST00000699600.1:c.*645A>T	ENSP00000514469.1:n.*645A>T
ENST00000699601.1:c.*2359A>T	ENSP00000514470.1:n.*2359A>T
ENST00000699602.1:c.3978A>T	ENSP00000514471.1:p.Ile1326=
ENST00000699604.1:c.*3808A>T	ENSP00000514472.1:n.*3808A>T
ENST00000699605.1:c.3558A>T	ENSP00000514473.1:p.Ile1186=
ENST00000699606.1:n.2152A>T
ENST00000685018.1:c.848A>T	ENSP00000510194.1:n.848A>T
ENST00000687278.1:c.1771A>T	ENSP00000509593.1:n.1771A>T
ENST00000689011.1:c.566A>T
ENST00000003084.11:c.3984A>T MANE Select	ENSP00000003084.6:p.Ile1328=
ENST00000647720.1:c.1434A>T
ENST00000649781.1:c.3801A>T	ENSP00000497203.1:p.Ile1267=
ENST00000003084.10:c.3984A>T	ENSP00000003084.6:p.Ile1328=
ENST00000426809.5:c.3894A>T	ENSP00000389119.1:p.Ile1298=
ENST00000600166.1:c.110A>T
NM_000492.3:c.3984A>T , LRG_663t1:c.3984A>T	NP_000483.3:p.Ile1328=
XM_011515751.1:c.4074A>T	XP_011514053.1:p.Ile1358=
XM_011515752.1:c.4074A>T	XP_011514054.1:p.Ile1358=
XM_011515753.1:c.3741A>T	XP_011514055.1:p.Ile1247=
XM_011515754.1:c.3741A>T	XP_011514056.1:p.Ile1247=
NM_000492.4:c.3984A>T MANE Select	NP_000483.3:p.Ile1328=