Canonical Allele Identifier: CA913190194

Gene: CFTR

Linked Data

• ClinVar Variation Id: 618909
• ClinVar RCV Id: RCV000757806
• dbSNP Id: rs121908746

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117592218_117592219dup , CM000669.2:g.117592218_117592219dup	GRCh38
NC_000007.13:g.117232272_117232273dup , CM000669.1:g.117232272_117232273dup	GRCh37
NC_000007.12:g.117019508_117019509dup	NCBI36
NG_016465.4:g.131435_131436dup , LRG_663:g.131435_131436dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000647720.2:c.2051_2052dup	ENSP00000497673.2:p.Gln685AsnfsTer?
ENST00000647978.2:c.*1765_*1766dup	ENSP00000497658.1:n.*1765_*1766dup
ENST00000649781.2:c.1868_1869dup	ENSP00000497203.1:p.Gln624AsnfsTer?
ENST00000685018.2:c.2051_2052dup	ENSP00000510194.2:p.Gln685AsnfsTer?
ENST00000687278.2:c.2051_2052dup	ENSP00000509593.2:p.Gln685AsnfsTer?
ENST00000699585.1:c.2051_2052dup	ENSP00000514456.1:p.Gln685AsnfsTer?
ENST00000699598.1:c.2051_2052dup	ENSP00000514467.1:p.Gln685AsnfsTer?
ENST00000699599.1:c.2051_2052dup	ENSP00000514468.1:p.Gln685AsnfsTer?
ENST00000699600.1:c.2051_2052dup	ENSP00000514469.1:p.Gln685AsnfsTer?
ENST00000699601.1:c.*351_*352dup	ENSP00000514470.1:n.*351_*352dup
ENST00000699602.1:c.2051_2052dup	ENSP00000514471.1:p.Gln685AsnfsTer?
ENST00000699604.1:c.*1875_*1876dup	ENSP00000514472.1:n.*1875_*1876dup
ENST00000699605.1:c.1625_1626dup	ENSP00000514473.1:p.Gln543AsnfsTer?
ENST00000003084.11:c.2051_2052dup MANE Select	ENSP00000003084.6:p.Gln685AsnfsTer?
ENST00000647978.1:c.*1765_*1766dup	ENSP00000497658.1:n.*1765_*1766dup
ENST00000648260.1:c.1402-10608_1402-10607dup	ENSP00000497957.1:n.1402-10608_1402-10607...
ENST00000649406.1:c.1868_1869dup	ENSP00000497965.1:p.Gln624AsnfsTer?
ENST00000649781.1:c.1868_1869dup	ENSP00000497203.1:p.Gln624AsnfsTer?
ENST00000003084.10:c.2051_2052dup	ENSP00000003084.6:p.Gln685AsnfsTer?
ENST00000426809.5:c.1961_1962dup	ENSP00000389119.1:p.Gln655AsnfsTer?
NM_000492.3:c.2051_2052dup , LRG_663t1:c.2051_2052dup	NP_000483.3:p.Gln685AsnfsTer?
XM_011515751.1:c.2141_2142dup	XP_011514053.1:p.Gln715AsnfsTer?
XM_011515752.1:c.2141_2142dup	XP_011514054.1:p.Gln715AsnfsTer?
XM_011515753.1:c.1808_1809dup	XP_011514055.1:p.Gln604AsnfsTer?
XM_011515754.1:c.1808_1809dup	XP_011514056.1:p.Gln604AsnfsTer?
NM_000492.4:c.2051_2052dup MANE Select	NP_000483.3:p.Gln685AsnfsTer?