Canonical Allele Identifier: CA645509183
Gene: CFTR HGNC NCBI

Linked Data

ClinVar Variation Id: 439081
ClinVar RCV Id: RCV000508389
dbSNP Id: rs1554397515

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.117664802del , CM000669.2:g.117664802del GRCh38
NC_000007.13:g.117304856del , CM000669.1:g.117304856del GRCh37
NC_000007.12:g.117092092del NCBI36
NG_016465.4:g.204019del , LRG_663:g.204019del

Transcript Alleles

HGVS Amino-acid change
ENST00000647720.2:c.*287del ENSP00000497673.2:n.*287del
ENST00000647978.2:c.*3792del ENSP00000497658.1:n.*3792del
ENST00000649781.2:c.3895del ENSP00000497203.1:p.Val1299PhefsTer20
ENST00000685018.2:c.*291del ENSP00000510194.2:n.*291del
ENST00000687278.2:c.*731del ENSP00000509593.2:n.*731del
ENST00000699585.1:c.*287del ENSP00000514456.1:n.*287del
ENST00000699598.1:c.4078del ENSP00000514467.1:p.Val1360PhefsTer20
ENST00000699599.1:c.*291del ENSP00000514468.1:n.*291del
ENST00000699600.1:c.*739del ENSP00000514469.1:n.*739del
ENST00000699601.1:c.*2453del ENSP00000514470.1:n.*2453del
ENST00000699602.1:c.4072del ENSP00000514471.1:p.Val1358PhefsTer20
ENST00000699604.1:c.*3902del ENSP00000514472.1:n.*3902del
ENST00000699605.1:c.3652del ENSP00000514473.1:p.Val1218PhefsTer20
ENST00000699606.1:n.2246del
ENST00000685018.1:c.942del ENSP00000510194.1:n.942del
ENST00000687278.1:c.1865del ENSP00000509593.1:n.1865del
ENST00000689011.1:c.660del
ENST00000003084.11:c.4078del MANE Select ENSP00000003084.6:p.Val1360PhefsTer20
ENST00000647720.1:c.1528del
ENST00000649781.1:c.3895del ENSP00000497203.1:p.Val1299PhefsTer20
ENST00000003084.10:c.4078del ENSP00000003084.6:p.Val1360PhefsTer20
ENST00000426809.5:c.3988del ENSP00000389119.1:p.Val1330PhefsTer20
ENST00000600166.1:c.204del
NM_000492.3:c.4078del , LRG_663t1:c.4078del NP_000483.3:p.Val1360PhefsTer20
XM_011515751.1:c.4168del XP_011514053.1:p.Val1390PhefsTer20
XM_011515752.1:c.4168del XP_011514054.1:p.Val1390PhefsTer20
XM_011515753.1:c.3835del XP_011514055.1:p.Val1279PhefsTer20
XM_011515754.1:c.3835del XP_011514056.1:p.Val1279PhefsTer20
NM_000492.4:c.4078del MANE Select NP_000483.3:p.Val1360PhefsTer20