Canonical Allele Identifier: CA327227
Gene: CFTR HGNC NCBI

Linked Data

ClinVar Variation Id: 53769
ClinVar RCV Id: RCV001193676
dbSNP Id: rs397508580

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.117627593del , CM000669.2:g.117627593del GRCh38
NC_000007.13:g.117267647del , CM000669.1:g.117267647del GRCh37
NC_000007.12:g.117054883del NCBI36
NG_016465.4:g.166810del , LRG_663:g.166810del

Transcript Alleles

HGVS Amino-acid change
ENST00000647720.2:c.3517+23del ENSP00000497673.2:n.3517+23del
ENST00000647978.2:c.*3254del ENSP00000497658.1:n.*3254del
ENST00000649781.2:c.3357del ENSP00000497203.1:p.Lys1119AsnfsTer12
ENST00000685018.2:c.3540del ENSP00000510194.2:p.Lys1180AsnfsTer12
ENST00000687278.2:c.*193del ENSP00000509593.2:n.*193del
ENST00000699585.1:c.3517+23del ENSP00000514456.1:n.3517+23del
ENST00000699598.1:c.3540del ENSP00000514467.1:p.Lys1180AsnfsTer12
ENST00000699599.1:c.3540del ENSP00000514468.1:p.Lys1180AsnfsTer12
ENST00000699600.1:c.*201del ENSP00000514469.1:n.*201del
ENST00000699601.1:c.*1915del ENSP00000514470.1:n.*1915del
ENST00000699602.1:c.3534del ENSP00000514471.1:p.Lys1178AsnfsTer12
ENST00000699604.1:c.*3364del ENSP00000514472.1:n.*3364del
ENST00000699605.1:c.3114del ENSP00000514473.1:p.Lys1038AsnfsTer12
ENST00000685018.1:c.288del ENSP00000510194.1:p.Lys96AsnfsTer12
ENST00000687278.1:c.1327del ENSP00000509593.1:n.1327del
ENST00000689011.1:c.122del
ENST00000003084.11:c.3540del MANE Select ENSP00000003084.6:p.Lys1180AsnfsTer12
ENST00000647720.1:c.1167+23del
ENST00000648260.1:c.2322del ENSP00000497957.1:p.Lys774AsnfsTer12
ENST00000649406.1:c.3357del ENSP00000497965.1:p.Lys1119AsnfsTer12
ENST00000649781.1:c.3357del ENSP00000497203.1:p.Lys1119AsnfsTer12
ENST00000003084.10:c.3540del ENSP00000003084.6:p.Lys1180AsnfsTer12
ENST00000426809.5:c.3450del ENSP00000389119.1:p.Lys1150AsnfsTer12
ENST00000468795.1:c.365del
NM_000492.3:c.3540del , LRG_663t1:c.3540del NP_000483.3:p.Lys1180AsnfsTer12
XM_011515751.1:c.3630del XP_011514053.1:p.Lys1210AsnfsTer12
XM_011515752.1:c.3630del XP_011514054.1:p.Lys1210AsnfsTer12
XM_011515753.1:c.3297del XP_011514055.1:p.Lys1099AsnfsTer12
XM_011515754.1:c.3297del XP_011514056.1:p.Lys1099AsnfsTer12
NM_000492.4:c.3540del MANE Select NP_000483.3:p.Lys1180AsnfsTer12