Canonical Allele Identifier: CA327126
Gene: CFTR HGNC NCBI

Linked Data

ClinVar Variation Id: 2735083
ClinVar RCV Id: RCV003508841
dbSNP Id: rs397508529

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.117611728del , CM000669.2:g.117611728del GRCh38
NC_000007.13:g.117251782del , CM000669.1:g.117251782del GRCh37
NC_000007.12:g.117039018del NCBI36
NG_016465.4:g.150945del , LRG_663:g.150945del

Transcript Alleles

HGVS Amino-acid change
ENST00000647720.2:c.3287del ENSP00000497673.2:p.Leu1096ArgfsTer6
ENST00000647978.2:c.*3001del ENSP00000497658.1:n.*3001del
ENST00000649781.2:c.3104del ENSP00000497203.1:p.Leu1035ArgfsTer6
ENST00000685018.2:c.3287del ENSP00000510194.2:p.Leu1096ArgfsTer6
ENST00000687278.2:c.3287del ENSP00000509593.2:p.Leu1096ArgfsTer6
ENST00000699585.1:c.3287del ENSP00000514456.1:p.Leu1096ArgfsTer6
ENST00000699598.1:c.3287del ENSP00000514467.1:p.Leu1096ArgfsTer6
ENST00000699599.1:c.3287del ENSP00000514468.1:p.Leu1096ArgfsTer6
ENST00000699600.1:c.3287del ENSP00000514469.1:p.Leu1096ArgfsTer6
ENST00000699601.1:c.*1587del ENSP00000514470.1:n.*1587del
ENST00000699602.1:c.3287del ENSP00000514471.1:p.Leu1096ArgfsTer6
ENST00000699604.1:c.*3111del ENSP00000514472.1:n.*3111del
ENST00000699605.1:c.2861del ENSP00000514473.1:p.Leu954ArgfsTer6
ENST00000685018.1:c.35del ENSP00000510194.1:p.Leu12ArgfsTer6
ENST00000687278.1:c.878del ENSP00000509593.1:p.Leu293ArgfsTer6
ENST00000003084.11:c.3287del MANE Select ENSP00000003084.6:p.Leu1096ArgfsTer6
ENST00000647720.1:c.937del
ENST00000648260.1:c.2069del ENSP00000497957.1:p.Leu690ArgfsTer6
ENST00000649406.1:c.3104del ENSP00000497965.1:p.Leu1035ArgfsTer6
ENST00000649781.1:c.3104del ENSP00000497203.1:p.Leu1035ArgfsTer6
ENST00000003084.10:c.3287del ENSP00000003084.6:p.Leu1096ArgfsTer6
ENST00000426809.5:c.3197del ENSP00000389119.1:p.Leu1066ArgfsTer6
ENST00000468795.1:c.112del
NM_000492.3:c.3287del , LRG_663t1:c.3287del NP_000483.3:p.Leu1096ArgfsTer6
XM_011515751.1:c.3377del XP_011514053.1:p.Leu1126ArgfsTer6
XM_011515752.1:c.3377del XP_011514054.1:p.Leu1126ArgfsTer6
XM_011515753.1:c.3044del XP_011514055.1:p.Leu1015ArgfsTer6
XM_011515754.1:c.3044del XP_011514056.1:p.Leu1015ArgfsTer6
NM_000492.4:c.3287del MANE Select NP_000483.3:p.Leu1096ArgfsTer6