Canonical Allele Identifier: CA915945422

Gene: CFTR

Linked Data

• ClinVar Variation Id: 818138
• ClinVar RCV Id: RCV001009444
• dbSNP Id: rs1584810167

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117587770_117587771dup , CM000669.2:g.117587770_117587771dup	GRCh38
NC_000007.13:g.117227824_117227825dup , CM000669.1:g.117227824_117227825dup	GRCh37
NC_000007.12:g.117015060_117015061dup	NCBI36
NG_016465.4:g.126987_126988dup , LRG_663:g.126987_126988dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647720.2:c.1616_1617dup	ENSP00000497673.2:p.Val540Ter
ENST00000647978.2:c.*1330_*1331dup	ENSP00000497658.1:n.*1330_*1331dup
ENST00000649781.2:c.1433_1434dup	ENSP00000497203.1:p.Val479Ter
ENST00000685018.2:c.1616_1617dup	ENSP00000510194.2:p.Val540Ter
ENST00000687278.2:c.1616_1617dup	ENSP00000509593.2:p.Val540Ter
ENST00000699585.1:c.1616_1617dup	ENSP00000514456.1:p.Val540Ter
ENST00000699598.1:c.1616_1617dup	ENSP00000514467.1:p.Val540Ter
ENST00000699599.1:c.1616_1617dup	ENSP00000514468.1:p.Val540Ter
ENST00000699600.1:c.1616_1617dup	ENSP00000514469.1:p.Val540Ter
ENST00000699601.1:c.1616_1617dup	ENSP00000514470.1:p.Val540Ter
ENST00000699602.1:c.1616_1617dup	ENSP00000514471.1:p.Val540Ter
ENST00000699604.1:c.*1440_*1441dup	ENSP00000514472.1:n.*1440_*1441dup
ENST00000699605.1:c.1190_1191dup	ENSP00000514473.1:p.Val398Ter
ENST00000003084.11:c.1616_1617dup MANE Select	ENSP00000003084.6:p.Val540Ter
ENST00000647978.1:c.*1330_*1331dup	ENSP00000497658.1:n.*1330_*1331dup
ENST00000648260.1:c.1402-15056_1402-15055dup	ENSP00000497957.1:n.1402-15056_1402-15055dup
ENST00000649406.1:c.1433_1434dup	ENSP00000497965.1:p.Val479Ter
ENST00000649781.1:c.1433_1434dup	ENSP00000497203.1:p.Val479Ter
ENST00000003084.10:c.1616_1617dup	ENSP00000003084.6:p.Val540Ter
ENST00000426809.5:c.1526_1527dup	ENSP00000389119.1:p.Val510Ter
NM_000492.3:c.1616_1617dup , LRG_663t1:c.1616_1617dup	NP_000483.3:p.Val540Ter
XM_011515751.1:c.1706_1707dup	XP_011514053.1:p.Val570Ter
XM_011515752.1:c.1706_1707dup	XP_011514054.1:p.Val570Ter
XM_011515753.1:c.1373_1374dup	XP_011514055.1:p.Val459Ter
XM_011515754.1:c.1373_1374dup	XP_011514056.1:p.Val459Ter
NM_000492.4:c.1616_1617dup MANE Select	NP_000483.3:p.Val540Ter