Canonical Allele Identifier: CA276116
Gene: CFTR HGNC NCBI

Linked Data

ClinVar Variation Id: 487397
dbSNP Id: rs797045162

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.117592220dup , CM000669.2:g.117592220dup GRCh38
NC_000007.13:g.117232274dup , CM000669.1:g.117232274dup GRCh37
NC_000007.12:g.117019510dup NCBI36
NG_016465.4:g.131437dup , LRG_663:g.131437dup

Transcript Alleles

HGVS Amino-acid change
ENST00000647720.2:c.2053dup ENSP00000497673.2:p.Gln685ProfsTer4
ENST00000647978.2:c.*1767dup ENSP00000497658.1:n.*1767dup
ENST00000649781.2:c.1870dup ENSP00000497203.1:p.Gln624ProfsTer4
ENST00000685018.2:c.2053dup ENSP00000510194.2:p.Gln685ProfsTer4
ENST00000687278.2:c.2053dup ENSP00000509593.2:p.Gln685ProfsTer4
ENST00000699585.1:c.2053dup ENSP00000514456.1:p.Gln685ProfsTer4
ENST00000699598.1:c.2053dup ENSP00000514467.1:p.Gln685ProfsTer4
ENST00000699599.1:c.2053dup ENSP00000514468.1:p.Gln685ProfsTer4
ENST00000699600.1:c.2053dup ENSP00000514469.1:p.Gln685ProfsTer4
ENST00000699601.1:c.*353dup ENSP00000514470.1:n.*353dup
ENST00000699602.1:c.2053dup ENSP00000514471.1:p.Gln685ProfsTer4
ENST00000699604.1:c.*1877dup ENSP00000514472.1:n.*1877dup
ENST00000699605.1:c.1627dup ENSP00000514473.1:p.Gln543ProfsTer4
ENST00000003084.11:c.2053dup MANE Select ENSP00000003084.6:p.Gln685ProfsTer4
ENST00000647978.1:c.*1767dup ENSP00000497658.1:n.*1767dup
ENST00000648260.1:c.1402-10606dup ENSP00000497957.1:n.1402-10606dup
ENST00000649406.1:c.1870dup ENSP00000497965.1:p.Gln624ProfsTer4
ENST00000649781.1:c.1870dup ENSP00000497203.1:p.Gln624ProfsTer4
ENST00000003084.10:c.2053dup ENSP00000003084.6:p.Gln685ProfsTer4
ENST00000426809.5:c.1963dup ENSP00000389119.1:p.Gln655ProfsTer4
NM_000492.3:c.2053dup , LRG_663t1:c.2053dup NP_000483.3:p.Gln685ProfsTer4
XM_011515751.1:c.2143dup XP_011514053.1:p.Gln715ProfsTer4
XM_011515752.1:c.2143dup XP_011514054.1:p.Gln715ProfsTer4
XM_011515753.1:c.1810dup XP_011514055.1:p.Gln604ProfsTer4
XM_011515754.1:c.1810dup XP_011514056.1:p.Gln604ProfsTer4
NM_000492.4:c.2053dup MANE Select NP_000483.3:p.Gln685ProfsTer4