Canonical Allele Identifier: CA325695
Gene: CFTR HGNC NCBI

Linked Data

ClinVar Variation Id: 35831
dbSNP Id: rs193922505

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.117590365del , CM000669.2:g.117590365del GRCh38
NC_000007.13:g.117230419del , CM000669.1:g.117230419del GRCh37
NC_000007.12:g.117017655del NCBI36
NG_016465.4:g.129582del , LRG_663:g.129582del

Transcript Alleles

HGVS Amino-acid change
ENST00000647720.2:c.1692del ENSP00000497673.2:p.Asp565MetfsTer7
ENST00000647978.2:c.*1406del ENSP00000497658.1:n.*1406del
ENST00000649781.2:c.1509del ENSP00000497203.1:p.Asp504MetfsTer7
ENST00000685018.2:c.1692del ENSP00000510194.2:p.Asp565MetfsTer7
ENST00000687278.2:c.1692del ENSP00000509593.2:p.Asp565MetfsTer7
ENST00000699585.1:c.1692del ENSP00000514456.1:p.Asp565MetfsTer7
ENST00000699598.1:c.1692del ENSP00000514467.1:p.Asp565MetfsTer7
ENST00000699599.1:c.1692del ENSP00000514468.1:p.Asp565MetfsTer7
ENST00000699600.1:c.1692del ENSP00000514469.1:p.Asp565MetfsTer7
ENST00000699601.1:c.1687del ENSP00000514470.1:p.Arg563AspfsTer?
ENST00000699602.1:c.1692del ENSP00000514471.1:p.Asp565MetfsTer7
ENST00000699604.1:c.*1516del ENSP00000514472.1:n.*1516del
ENST00000699605.1:c.1266del ENSP00000514473.1:p.Asp423MetfsTer7
ENST00000003084.11:c.1692del MANE Select ENSP00000003084.6:p.Asp565MetfsTer7
ENST00000647978.1:c.*1406del ENSP00000497658.1:n.*1406del
ENST00000648260.1:c.1402-12461del ENSP00000497957.1:n.1402-12461del
ENST00000649406.1:c.1509del ENSP00000497965.1:p.Asp504MetfsTer7
ENST00000649781.1:c.1509del ENSP00000497203.1:p.Asp504MetfsTer7
ENST00000003084.10:c.1692del ENSP00000003084.6:p.Asp565MetfsTer7
ENST00000426809.5:c.1602del ENSP00000389119.1:p.Asp535MetfsTer7
NM_000492.3:c.1692del , LRG_663t1:c.1692del NP_000483.3:p.Asp565MetfsTer7
XM_011515751.1:c.1782del XP_011514053.1:p.Asp595MetfsTer7
XM_011515752.1:c.1782del XP_011514054.1:p.Asp595MetfsTer7
XM_011515753.1:c.1449del XP_011514055.1:p.Asp484MetfsTer7
XM_011515754.1:c.1449del XP_011514056.1:p.Asp484MetfsTer7
NM_000492.4:c.1692del MANE Select NP_000483.3:p.Asp565MetfsTer7