Canonical Allele Identifier: CA16041140
Gene: CFTR HGNC NCBI

Linked Data

ClinVar Variation Id: 370397
ClinVar RCV Id: RCV000410790
dbSNP Id: rs1057516457
MyVariant Identifiers: chr7:g.117304766_117304767del (hg19) chr7:g.117664712_117664713del (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.117664712_117664713del , CM000669.2:g.117664712_117664713del GRCh38
NC_000007.13:g.117304766_117304767del , CM000669.1:g.117304766_117304767del GRCh37
NC_000007.12:g.117092002_117092003del NCBI36
NG_016465.4:g.203929_203930del , LRG_663:g.203929_203930del

Transcript Alleles

HGVS Amino-acid change
ENST00000647720.2:c.*197_*198del ENSP00000497673.2:n.*197_*198del
ENST00000647978.2:c.*3702_*3703del ENSP00000497658.1:n.*3702_*3703del
ENST00000649781.2:c.3805_3806del ENSP00000497203.1:p.Gln1269ValfsTer6
ENST00000685018.2:c.*201_*202del ENSP00000510194.2:n.*201_*202del
ENST00000687278.2:c.*641_*642del ENSP00000509593.2:n.*641_*642del
ENST00000699585.1:c.*197_*198del ENSP00000514456.1:n.*197_*198del
ENST00000699598.1:c.3988_3989del ENSP00000514467.1:p.Gln1330ValfsTer6
ENST00000699599.1:c.*201_*202del ENSP00000514468.1:n.*201_*202del
ENST00000699600.1:c.*649_*650del ENSP00000514469.1:n.*649_*650del
ENST00000699601.1:c.*2363_*2364del ENSP00000514470.1:n.*2363_*2364del
ENST00000699602.1:c.3982_3983del ENSP00000514471.1:p.Gln1328ValfsTer6
ENST00000699604.1:c.*3812_*3813del ENSP00000514472.1:n.*3812_*3813del
ENST00000699605.1:c.3562_3563del ENSP00000514473.1:p.Gln1188ValfsTer6
ENST00000699606.1:n.2156_2157del
ENST00000685018.1:c.852_853del ENSP00000510194.1:n.852_853del
ENST00000687278.1:c.1775_1776del ENSP00000509593.1:n.1775_1776del
ENST00000689011.1:c.570_571del
ENST00000003084.11:c.3988_3989del MANE Select ENSP00000003084.6:p.Gln1330ValfsTer6
ENST00000647720.1:c.1438_1439del
ENST00000649781.1:c.3805_3806del ENSP00000497203.1:p.Gln1269ValfsTer6
ENST00000003084.10:c.3988_3989del ENSP00000003084.6:p.Gln1330ValfsTer6
ENST00000426809.5:c.3898_3899del ENSP00000389119.1:p.Gln1300ValfsTer6
ENST00000600166.1:c.114_115del
NM_000492.3:c.3988_3989del , LRG_663t1:c.3988_3989del NP_000483.3:p.Gln1330ValfsTer6
XM_011515751.1:c.4078_4079del XP_011514053.1:p.Gln1360ValfsTer6
XM_011515752.1:c.4078_4079del XP_011514054.1:p.Gln1360ValfsTer6
XM_011515753.1:c.3745_3746del XP_011514055.1:p.Gln1249ValfsTer6
XM_011515754.1:c.3745_3746del XP_011514056.1:p.Gln1249ValfsTer6
NM_000492.4:c.3988_3989del MANE Select NP_000483.3:p.Gln1330ValfsTer6
Search 100 bp 5'
Search 100 bp 3'