Canonical Allele Identifier: CA328122
Gene: CFTR HGNC NCBI

Linked Data

ClinVar Variation Id: 53933
dbSNP Id: rs397508706

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.117666916del , CM000669.2:g.117666916del GRCh38
NC_000007.13:g.117306970del , CM000669.1:g.117306970del GRCh37
NC_000007.12:g.117094206del NCBI36
NG_016465.4:g.206133del , LRG_663:g.206133del

Transcript Alleles

HGVS Amino-acid change
ENST00000647720.2:c.*460del ENSP00000497673.2:n.*460del
ENST00000647978.2:c.*3965del ENSP00000497658.1:n.*3965del
ENST00000649781.2:c.4068del ENSP00000497203.1:p.Glu1357ArgfsTer14
ENST00000685018.2:c.*464del ENSP00000510194.2:n.*464del
ENST00000687278.2:c.*896-686del ENSP00000509593.2:n.*896-686del
ENST00000699585.1:c.*720del ENSP00000514456.1:n.*720del
ENST00000699598.1:c.4244del ENSP00000514467.1:p.Lys1415ArgfsTer?
ENST00000699599.1:c.*464del ENSP00000514468.1:n.*464del
ENST00000699600.1:c.*904-686del ENSP00000514469.1:n.*904-686del
ENST00000699601.1:c.*2626del ENSP00000514470.1:n.*2626del
ENST00000699602.1:c.4245del ENSP00000514471.1:p.Glu1416ArgfsTer14
ENST00000699604.1:c.*4075del ENSP00000514472.1:n.*4075del
ENST00000699605.1:c.3825del ENSP00000514473.1:p.Glu1276ArgfsTer14
ENST00000699606.1:n.3762del
ENST00000685018.1:c.1115del ENSP00000510194.1:n.1115del
ENST00000687278.1:c.2030-686del ENSP00000509593.1:n.2030-686del
ENST00000689011.1:c.1093del
ENST00000003084.11:c.4251del MANE Select ENSP00000003084.6:p.Glu1418ArgfsTer14
ENST00000647720.1:c.1701del
ENST00000649781.1:c.4068del ENSP00000497203.1:p.Glu1357ArgfsTer14
ENST00000003084.10:c.4251del ENSP00000003084.6:p.Glu1418ArgfsTer14
ENST00000426809.5:c.4161del ENSP00000389119.1:p.Glu1388ArgfsTer14
ENST00000600166.1:c.368+1352del
NM_000492.3:c.4251del , LRG_663t1:c.4251del NP_000483.3:p.Glu1418ArgfsTer14
XM_011515751.1:c.4341del XP_011514053.1:p.Glu1448ArgfsTer14
XM_011515753.1:c.4008del XP_011514055.1:p.Glu1337ArgfsTer14
XM_011515754.1:c.4008del XP_011514056.1:p.Glu1337ArgfsTer14
NM_000492.4:c.4251del MANE Select NP_000483.3:p.Glu1418ArgfsTer14