Canonical Allele Identifier: CA457230794

Gene: CFTR

Linked Data

• MyVariant Identifiers: chr7:g.117305528T>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117665474T>A , CM000669.2:g.117665474T>A	GRCh38
NC_000007.13:g.117305528T>A , CM000669.1:g.117305528T>A	GRCh37
NC_000007.12:g.117092764T>A	NCBI36
NG_016465.4:g.204691T>A , LRG_663:g.204691T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647720.2:c.*361T>A	ENSP00000497673.2:n.*361T>A
ENST00000647978.2:c.*3866T>A	ENSP00000497658.1:n.*3866T>A
ENST00000649781.2:c.3969T>A	ENSP00000497203.1:p.Ile1323=
ENST00000685018.2:c.*365T>A	ENSP00000510194.2:n.*365T>A
ENST00000687278.2:c.*805T>A	ENSP00000509593.2:n.*805T>A
ENST00000699585.1:c.*361T>A	ENSP00000514456.1:n.*361T>A
ENST00000699598.1:c.4152T>A	ENSP00000514467.1:p.Ile1384=
ENST00000699599.1:c.*365T>A	ENSP00000514468.1:n.*365T>A
ENST00000699600.1:c.*813T>A	ENSP00000514469.1:n.*813T>A
ENST00000699601.1:c.*2527T>A	ENSP00000514470.1:n.*2527T>A
ENST00000699602.1:c.4146T>A	ENSP00000514471.1:p.Ile1382=
ENST00000699604.1:c.*3976T>A	ENSP00000514472.1:n.*3976T>A
ENST00000699605.1:c.3726T>A	ENSP00000514473.1:p.Ile1242=
ENST00000699606.1:n.2320T>A
ENST00000685018.1:c.1016T>A	ENSP00000510194.1:n.1016T>A
ENST00000687278.1:c.1939T>A	ENSP00000509593.1:n.1939T>A
ENST00000689011.1:c.734T>A
ENST00000003084.11:c.4152T>A MANE Select	ENSP00000003084.6:p.Ile1384=
ENST00000647720.1:c.1602T>A
ENST00000649781.1:c.3969T>A	ENSP00000497203.1:p.Ile1323=
ENST00000003084.10:c.4152T>A	ENSP00000003084.6:p.Ile1384=
ENST00000426809.5:c.4062T>A	ENSP00000389119.1:p.Ile1354=
ENST00000600166.1:c.278T>A
NM_000492.3:c.4152T>A , LRG_663t1:c.4152T>A	NP_000483.3:p.Ile1384=
XM_011515751.1:c.4242T>A	XP_011514053.1:p.Ile1414=
XM_011515752.1:c.4242T>A	XP_011514054.1:p.Ile1414=
XM_011515753.1:c.3909T>A	XP_011514055.1:p.Ile1303=
XM_011515754.1:c.3909T>A	XP_011514056.1:p.Ile1303=
NM_000492.4:c.4152T>A MANE Select	NP_000483.3:p.Ile1384=