Canonical Allele Identifier: CA326655
Gene: CFTR HGNC NCBI

Linked Data

ClinVar Variation Id: 487400
dbSNP Id: rs397508294

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.117509044dup , CM000669.2:g.117509044dup GRCh38
NC_000007.13:g.117149098dup , CM000669.1:g.117149098dup GRCh37
NC_000007.12:g.116936334dup NCBI36
NG_016465.4:g.48261dup , LRG_663:g.48261dup

Transcript Alleles

HGVS Amino-acid change
ENST00000647720.2:c.175dup ENSP00000497673.2:p.Arg59LysfsTer10
ENST00000647978.2:c.*72dup ENSP00000497658.1:n.*72dup
ENST00000649781.2:c.175dup ENSP00000497203.1:p.Arg59LysfsTer10
ENST00000649850.2:c.*72dup ENSP00000514457.1:n.*72dup
ENST00000685018.2:c.175dup ENSP00000510194.2:p.Arg59LysfsTer10
ENST00000687278.2:c.175dup ENSP00000509593.2:p.Arg59LysfsTer10
ENST00000699585.1:c.175dup ENSP00000514456.1:p.Arg59LysfsTer10
ENST00000699596.1:c.175dup ENSP00000514465.1:p.Arg59LysfsTer10
ENST00000699597.1:c.175dup ENSP00000514466.1:p.Arg59LysfsTer10
ENST00000699598.1:c.175dup ENSP00000514467.1:p.Arg59LysfsTer10
ENST00000699599.1:c.175dup ENSP00000514468.1:p.Arg59LysfsTer10
ENST00000699600.1:c.175dup ENSP00000514469.1:p.Arg59LysfsTer10
ENST00000699601.1:c.175dup ENSP00000514470.1:p.Arg59LysfsTer10
ENST00000699602.1:c.175dup ENSP00000514471.1:p.Arg59LysfsTer10
ENST00000699604.1:c.173dup ENSP00000514472.1:p.Ter58=
ENST00000699605.1:c.-69dup ENSP00000514473.1:n.-69dup
ENST00000446805.2:c.-69dup ENSP00000417012.1:n.-69dup
ENST00000003084.11:c.175dup MANE Select ENSP00000003084.6:p.Arg59LysfsTer10
ENST00000647639.1:n.259dup
ENST00000647978.1:c.*72dup ENSP00000497658.1:n.*72dup
ENST00000648260.1:c.175dup ENSP00000497957.1:p.Arg59LysfsTer10
ENST00000649406.1:c.175dup ENSP00000497965.1:p.Arg59LysfsTer10
ENST00000649781.1:c.175dup ENSP00000497203.1:p.Arg59LysfsTer10
ENST00000649850.1:n.332dup
ENST00000673785.1:c.-69dup ENSP00000501235.1:n.-69dup
ENST00000003084.10:c.175dup ENSP00000003084.6:p.Arg59LysfsTer10
ENST00000426809.5:c.175dup ENSP00000389119.1:p.Arg59LysfsTer10
ENST00000446805.1:c.-69dup ENSP00000417012.1:n.-69dup
NM_000492.3:c.175dup , LRG_663t1:c.175dup NP_000483.3:p.Arg59LysfsTer10
XM_011515751.1:c.265dup XP_011514053.1:p.Arg89LysfsTer10
XM_011515752.1:c.265dup XP_011514054.1:p.Arg89LysfsTer10
XM_011515753.1:c.-69dup XP_011514055.1:n.-69dup
XM_011515754.1:c.-69dup XP_011514056.1:n.-69dup
NM_000492.4:c.175dup MANE Select NP_000483.3:p.Arg59LysfsTer10