Canonical Allele Identifier: CA457230312

Gene: CFTR

Linked Data

• ClinVar Variation Id: 1737325
• ClinVar RCV Id: RCV002321244
• MyVariant Identifiers: chr7:g.117304825C>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117664771C>A , CM000669.2:g.117664771C>A	GRCh38
NC_000007.13:g.117304825C>A , CM000669.1:g.117304825C>A	GRCh37
NC_000007.12:g.117092061C>A	NCBI36
NG_016465.4:g.203988C>A , LRG_663:g.203988C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647720.2:c.*256C>A	ENSP00000497673.2:n.*256C>A
ENST00000647978.2:c.*3761C>A	ENSP00000497658.1:n.*3761C>A
ENST00000649781.2:c.3864C>A	ENSP00000497203.1:p.Gly1288=
ENST00000685018.2:c.*260C>A	ENSP00000510194.2:n.*260C>A
ENST00000687278.2:c.*700C>A	ENSP00000509593.2:n.*700C>A
ENST00000699585.1:c.*256C>A	ENSP00000514456.1:n.*256C>A
ENST00000699598.1:c.4047C>A	ENSP00000514467.1:p.Gly1349=
ENST00000699599.1:c.*260C>A	ENSP00000514468.1:n.*260C>A
ENST00000699600.1:c.*708C>A	ENSP00000514469.1:n.*708C>A
ENST00000699601.1:c.*2422C>A	ENSP00000514470.1:n.*2422C>A
ENST00000699602.1:c.4041C>A	ENSP00000514471.1:p.Gly1347=
ENST00000699604.1:c.*3871C>A	ENSP00000514472.1:n.*3871C>A
ENST00000699605.1:c.3621C>A	ENSP00000514473.1:p.Gly1207=
ENST00000699606.1:n.2215C>A
ENST00000685018.1:c.911C>A	ENSP00000510194.1:n.911C>A
ENST00000687278.1:c.1834C>A	ENSP00000509593.1:n.1834C>A
ENST00000689011.1:c.629C>A
ENST00000003084.11:c.4047C>A MANE Select	ENSP00000003084.6:p.Gly1349=
ENST00000647720.1:c.1497C>A
ENST00000649781.1:c.3864C>A	ENSP00000497203.1:p.Gly1288=
ENST00000003084.10:c.4047C>A	ENSP00000003084.6:p.Gly1349=
ENST00000426809.5:c.3957C>A	ENSP00000389119.1:p.Gly1319=
ENST00000600166.1:c.173C>A
NM_000492.3:c.4047C>A , LRG_663t1:c.4047C>A	NP_000483.3:p.Gly1349=
XM_011515751.1:c.4137C>A	XP_011514053.1:p.Gly1379=
XM_011515752.1:c.4137C>A	XP_011514054.1:p.Gly1379=
XM_011515753.1:c.3804C>A	XP_011514055.1:p.Gly1268=
XM_011515754.1:c.3804C>A	XP_011514056.1:p.Gly1268=
NM_000492.4:c.4047C>A MANE Select	NP_000483.3:p.Gly1349=