Canonical Allele Identifier: CA1737374883
Gene: CFTR HGNC NCBI

Linked Data

dbSNP Id: rs752480683

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.117603636dup , CM000669.2:g.117603636dup GRCh38
NC_000007.13:g.117243690dup , CM000669.1:g.117243690dup GRCh37
NC_000007.12:g.117030926dup NCBI36
NG_016465.4:g.142853dup , LRG_663:g.142853dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000647720.2:c.2762dup ENSP00000497673.2:p.Val922SerfsTer?
ENST00000647978.2:c.*2476dup ENSP00000497658.1:n.*2476dup
ENST00000649781.2:c.2579dup ENSP00000497203.1:p.Val861SerfsTer?
ENST00000685018.2:c.2762dup ENSP00000510194.2:p.Val922SerfsTer?
ENST00000687278.2:c.2762dup ENSP00000509593.2:p.Val922SerfsTer?
ENST00000699585.1:c.2762dup ENSP00000514456.1:p.Val922SerfsTer?
ENST00000699598.1:c.2762dup ENSP00000514467.1:p.Val922SerfsTer?
ENST00000699599.1:c.2762dup ENSP00000514468.1:p.Val922SerfsTer?
ENST00000699600.1:c.2762dup ENSP00000514469.1:p.Val922SerfsTer?
ENST00000699601.1:c.*1062dup ENSP00000514470.1:n.*1062dup
ENST00000699602.1:c.2762dup ENSP00000514471.1:p.Val922SerfsTer?
ENST00000699604.1:c.*2586dup ENSP00000514472.1:n.*2586dup
ENST00000699605.1:c.2336dup ENSP00000514473.1:p.Val780SerfsTer?
ENST00000687278.1:c.353dup ENSP00000509593.1:p.Val119SerfsTer?
ENST00000003084.11:c.2762dup MANE Select ENSP00000003084.6:p.Val922SerfsTer?
ENST00000647720.1:c.412dup
ENST00000648260.1:c.1544dup ENSP00000497957.1:p.Val516SerfsTer?
ENST00000649406.1:c.2579dup ENSP00000497965.1:p.Val861SerfsTer?
ENST00000649781.1:c.2579dup ENSP00000497203.1:p.Val861SerfsTer?
ENST00000003084.10:c.2762dup ENSP00000003084.6:p.Val922SerfsTer?
ENST00000426809.5:c.2672dup ENSP00000389119.1:p.Val892SerfsTer?
NM_000492.3:c.2762dup , LRG_663t1:c.2762dup NP_000483.3:p.Val922SerfsTer?
XM_011515751.1:c.2852dup XP_011514053.1:p.Val952SerfsTer?
XM_011515752.1:c.2852dup XP_011514054.1:p.Val952SerfsTer?
XM_011515753.1:c.2519dup XP_011514055.1:p.Val841SerfsTer?
XM_011515754.1:c.2519dup XP_011514056.1:p.Val841SerfsTer?
NM_000492.4:c.2762dup MANE Select NP_000483.3:p.Val922SerfsTer?