Canonical Allele Identifier: CA457228250

Gene: CFTR

Linked Data

• MyVariant Identifiers: chr7:g.117282581C>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117642527C>A , CM000669.2:g.117642527C>A	GRCh38
NC_000007.13:g.117282581C>A , CM000669.1:g.117282581C>A	GRCh37
NC_000007.12:g.117069817C>A	NCBI36
NG_016465.4:g.181744C>A , LRG_663:g.181744C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647720.2:c.*16C>A	ENSP00000497673.2:n.*16C>A
ENST00000647978.2:c.*3521C>A	ENSP00000497658.1:n.*3521C>A
ENST00000649781.2:c.3624C>A	ENSP00000497203.1:p.Ile1208=
ENST00000685018.2:c.3807C>A	ENSP00000510194.2:p.Ile1269=
ENST00000687278.2:c.*460C>A	ENSP00000509593.2:n.*460C>A
ENST00000699585.1:c.*16C>A	ENSP00000514456.1:n.*16C>A
ENST00000699598.1:c.3807C>A	ENSP00000514467.1:p.Ile1269=
ENST00000699599.1:c.3807C>A	ENSP00000514468.1:p.Ile1269=
ENST00000699600.1:c.*468C>A	ENSP00000514469.1:n.*468C>A
ENST00000699601.1:c.*2182C>A	ENSP00000514470.1:n.*2182C>A
ENST00000699602.1:c.3801C>A	ENSP00000514471.1:p.Ile1267=
ENST00000699604.1:c.*3631C>A	ENSP00000514472.1:n.*3631C>A
ENST00000699605.1:c.3381C>A	ENSP00000514473.1:p.Ile1127=
ENST00000685018.1:c.555C>A	ENSP00000510194.1:p.Ile185=
ENST00000687278.1:c.1594C>A	ENSP00000509593.1:n.1594C>A
ENST00000689011.1:c.389C>A
ENST00000003084.11:c.3807C>A MANE Select	ENSP00000003084.6:p.Ile1269=
ENST00000647720.1:c.1257C>A
ENST00000649781.1:c.3624C>A	ENSP00000497203.1:p.Ile1208=
ENST00000003084.10:c.3807C>A	ENSP00000003084.6:p.Ile1269=
ENST00000426809.5:c.3717C>A	ENSP00000389119.1:p.Ile1239=
NM_000492.3:c.3807C>A , LRG_663t1:c.3807C>A	NP_000483.3:p.Ile1269=
XM_011515751.1:c.3897C>A	XP_011514053.1:p.Ile1299=
XM_011515752.1:c.3897C>A	XP_011514054.1:p.Ile1299=
XM_011515753.1:c.3564C>A	XP_011514055.1:p.Ile1188=
XM_011515754.1:c.3564C>A	XP_011514056.1:p.Ile1188=
NM_000492.4:c.3807C>A MANE Select	NP_000483.3:p.Ile1269=