Canonical Allele Identifier: CA327024
Gene: CFTR HGNC NCBI

Linked Data

ClinVar Variation Id: 53636
dbSNP Id: rs121908781

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.117610569del , CM000669.2:g.117610569del GRCh38
NC_000007.13:g.117250623del , CM000669.1:g.117250623del GRCh37
NC_000007.12:g.117037859del NCBI36
NG_016465.4:g.149786del , LRG_663:g.149786del

Transcript Alleles

HGVS Amino-acid change
ENST00000647720.2:c.3039del ENSP00000497673.2:p.Tyr1014ThrfsTer9
ENST00000647978.2:c.*2753del ENSP00000497658.1:n.*2753del
ENST00000649781.2:c.2856del ENSP00000497203.1:p.Tyr953ThrfsTer9
ENST00000685018.2:c.3039del ENSP00000510194.2:p.Tyr1014ThrfsTer9
ENST00000687278.2:c.3039del ENSP00000509593.2:p.Tyr1014ThrfsTer9
ENST00000699585.1:c.3039del ENSP00000514456.1:p.Tyr1014ThrfsTer9
ENST00000699598.1:c.3039del ENSP00000514467.1:p.Tyr1014ThrfsTer9
ENST00000699599.1:c.3039del ENSP00000514468.1:p.Tyr1014ThrfsTer9
ENST00000699600.1:c.3039del ENSP00000514469.1:p.Tyr1014ThrfsTer9
ENST00000699601.1:c.*1339del ENSP00000514470.1:n.*1339del
ENST00000699602.1:c.3039del ENSP00000514471.1:p.Tyr1014ThrfsTer9
ENST00000699604.1:c.*2863del ENSP00000514472.1:n.*2863del
ENST00000699605.1:c.2613del ENSP00000514473.1:p.Tyr872ThrfsTer9
ENST00000687278.1:c.630del ENSP00000509593.1:p.Tyr211ThrfsTer9
ENST00000003084.11:c.3039del MANE Select ENSP00000003084.6:p.Tyr1014ThrfsTer9
ENST00000647720.1:c.689del
ENST00000648260.1:c.1821del ENSP00000497957.1:p.Tyr608ThrfsTer9
ENST00000649406.1:c.2856del ENSP00000497965.1:p.Tyr953ThrfsTer9
ENST00000649781.1:c.2856del ENSP00000497203.1:p.Tyr953ThrfsTer9
ENST00000003084.10:c.3039del ENSP00000003084.6:p.Tyr1014ThrfsTer9
ENST00000426809.5:c.2949del ENSP00000389119.1:p.Tyr984ThrfsTer9
NM_000492.3:c.3039del , LRG_663t1:c.3039del NP_000483.3:p.Tyr1014ThrfsTer9
XM_011515751.1:c.3129del XP_011514053.1:p.Tyr1044ThrfsTer9
XM_011515752.1:c.3129del XP_011514054.1:p.Tyr1044ThrfsTer9
XM_011515753.1:c.2796del XP_011514055.1:p.Tyr933ThrfsTer9
XM_011515754.1:c.2796del XP_011514056.1:p.Tyr933ThrfsTer9
NM_000492.4:c.3039del MANE Select NP_000483.3:p.Tyr1014ThrfsTer9