Canonical Allele Identifier: CA457228075

Gene: CFTR

Linked Data

• MyVariant Identifiers: chr7:g.117282524G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117642470G>A , CM000669.2:g.117642470G>A	GRCh38
NC_000007.13:g.117282524G>A , CM000669.1:g.117282524G>A	GRCh37
NC_000007.12:g.117069760G>A	NCBI36
NG_016465.4:g.181687G>A , LRG_663:g.181687G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000647720.2:c.3550G>A	ENSP00000497673.2:p.Glu1184Lys
ENST00000647978.2:c.*3464G>A	ENSP00000497658.1:n.*3464G>A
ENST00000649781.2:c.3567G>A	ENSP00000497203.1:p.Lys1189=
ENST00000685018.2:c.3750G>A	ENSP00000510194.2:p.Lys1250=
ENST00000687278.2:c.*403G>A	ENSP00000509593.2:n.*403G>A
ENST00000699585.1:c.3550G>A	ENSP00000514456.1:p.Glu1184Lys
ENST00000699598.1:c.3750G>A	ENSP00000514467.1:p.Lys1250=
ENST00000699599.1:c.3750G>A	ENSP00000514468.1:p.Lys1250=
ENST00000699600.1:c.*411G>A	ENSP00000514469.1:n.*411G>A
ENST00000699601.1:c.*2125G>A	ENSP00000514470.1:n.*2125G>A
ENST00000699602.1:c.3744G>A	ENSP00000514471.1:p.Lys1248=
ENST00000699604.1:c.*3574G>A	ENSP00000514472.1:n.*3574G>A
ENST00000699605.1:c.3324G>A	ENSP00000514473.1:p.Lys1108=
ENST00000685018.1:c.498G>A	ENSP00000510194.1:p.Lys166=
ENST00000687278.1:c.1537G>A	ENSP00000509593.1:n.1537G>A
ENST00000689011.1:c.332G>A
ENST00000003084.11:c.3750G>A MANE Select	ENSP00000003084.6:p.Lys1250=
ENST00000647720.1:c.1200G>A
ENST00000649781.1:c.3567G>A	ENSP00000497203.1:p.Lys1189=
ENST00000003084.10:c.3750G>A	ENSP00000003084.6:p.Lys1250=
ENST00000426809.5:c.3660G>A	ENSP00000389119.1:p.Lys1220=
NM_000492.3:c.3750G>A , LRG_663t1:c.3750G>A	NP_000483.3:p.Lys1250=
XM_011515751.1:c.3840G>A	XP_011514053.1:p.Lys1280=
XM_011515752.1:c.3840G>A	XP_011514054.1:p.Lys1280=
XM_011515753.1:c.3507G>A	XP_011514055.1:p.Lys1169=
XM_011515754.1:c.3507G>A	XP_011514056.1:p.Lys1169=
NM_000492.4:c.3750G>A MANE Select	NP_000483.3:p.Lys1250=