Linked Data
ClinVar Variation Id:
7105
ClinVar RCV Id:
RCV000007523
RCV000007524
RCV000058929
RCV000119038
RCV000626692
RCV000626693
RCV001004459
RCV001642198
RCV001831519
RCV002251888
RCV001787370
RCV001787371
RCV002243627
RCV003444054
RCV002490332
RCV003227599
dbSNP Id:
rs113993960
ExAC:
7:117199644 ATCT / A
gnomAD v2:
7-117199644-ATCT-A
gnomAD v3:
7-117559590-ATCT-A
gnomAD v4:
7-117559590-ATCT-A
COSMIC:
COSM1684119
MyVariant Identifiers:
chr7:g.117199646_117199648del (hg19)
chr7:g.117199645_117199647del (hg19)
chr7:g.117199646_117199648delCTT (hg19)
chr7:g.117559592_117559594del (hg38)
chr7:g.117559591_117559593del (hg38)
PubMed:
PMID:1370875
PMID:1377276
PMID:1380673
PMID:1381146
PMID:1384321
PMID:1536179
PMID:1673094
PMID:1756602
PMID:1997384
PMID:2210767
PMID:2220803
PMID:2236053
PMID:2300168
PMID:2378364
PMID:2475911
PMID:2570460
PMID:3110945
PMID:7537148
PMID:9135274
PMID:9439669
PMID:11280952
PMID:11737931
PMID:12833420
PMID:12940920
PMID:14685937
PMID:15141088
PMID:15221447
PMID:15246977
PMID:15367919
PMID:15371902
PMID:15482777
PMID:15619636
PMID:17206681
PMID:17413420
PMID:17692578
PMID:18463704
PMID:18507830
PMID:18639722
PMID:19774621
PMID:19846789
PMID:20595578
PMID:20705837
PMID:21152102
PMID:21416780
PMID:21602569
PMID:21658649
PMID:21825083
PMID:21976485
PMID:22293084
PMID:22383668
PMID:22942289
PMID:22981120
PMID:22992668
PMID:23457292
PMID:23891399
PMID:23951356
PMID:23974870
PMID:24559724
PMID:24624459
PMID:24973281
PMID:25981758
PMID:26618866
PMID:26631874
PMID:26968770
PMID:27214033
PMID:27298017
PMID:28129809
PMID:28129811
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.117559592_117559594del , CM000669.2:g.117559592_117559594del | GRCh38 |
| NC_000007.13:g.117199646_117199648del , CM000669.1:g.117199646_117199648del | GRCh37 |
| NC_000007.12:g.116986882_116986884del | NCBI36 |
| NG_016465.4:g.98809_98811del , LRG_663:g.98809_98811del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000647720.2:c.1521_1523del (CFTR) | ENSP00000497673.2:p.Phe508del | |
| ENST00000647978.2:c.*1235_*1237del (CFTR) | ENSP00000497658.1:n.*1235_*1237del | |
| ENST00000649781.2:c.1338_1340del (CFTR) | ENSP00000497203.1:p.Phe447del | |
| ENST00000685018.2:c.1521_1523del (CFTR) | ENSP00000510194.2:p.Phe508del | |
| ENST00000687278.2:c.1521_1523del (CFTR) | ENSP00000509593.2:p.Phe508del | |
| ENST00000699585.1:c.1521_1523del (CFTR) | ENSP00000514456.1:p.Phe508del | |
| ENST00000699596.1:c.1521_1523del (CFTR) | ENSP00000514465.1:p.Phe508del | |
| ENST00000699597.1:c.*79_*81del (CFTR) | ENSP00000514466.1:n.*79_*81del | |
| ENST00000699598.1:c.1521_1523del (CFTR) | ENSP00000514467.1:p.Phe508del | |
| ENST00000699599.1:c.1521_1523del (CFTR) | ENSP00000514468.1:p.Phe508del | |
| ENST00000699600.1:c.1521_1523del (CFTR) | ENSP00000514469.1:p.Phe508del | |
| ENST00000699601.1:c.1521_1523del (CFTR) | ENSP00000514470.1:p.Phe508del | |
| ENST00000699602.1:c.1521_1523del (CFTR) | ENSP00000514471.1:p.Phe508del | |
| ENST00000699604.1:c.*1345_*1347del (CFTR) | ENSP00000514472.1:n.*1345_*1347del | |
| ENST00000699605.1:c.1095_1097del (CFTR) | ENSP00000514473.1:p.Phe366del | |
| ENST00000003084.11:c.1521_1523del (CFTR) MANE Select | ENSP00000003084.6:p.Phe508del | |
| ENST00000647978.1:c.*1235_*1237del (CFTR) | ENSP00000497658.1:n.*1235_*1237del | |
| ENST00000648260.1:c.1338_1340del (CFTR) | ENSP00000497957.1:p.Phe447del | |
| ENST00000649406.1:c.1338_1340del (CFTR) | ENSP00000497965.1:p.Phe447del | |
| ENST00000649781.1:c.1338_1340del (CFTR) | ENSP00000497203.1:p.Phe447del | |
| ENST00000003084.10:c.1521_1523del (CFTR) | ENSP00000003084.6:p.Phe508del | |
| ENST00000426809.5:c.1431_1433del (CFTR) | ENSP00000389119.1:p.Phe478del | |
| NM_000492.3:c.1521_1523del , LRG_663t1:c.1521_1523del (CFTR) | NP_000483.3:p.Phe508del | |
| XM_011515751.1:c.1611_1613del (CFTR) | XP_011514053.1:p.Phe538del | |
| XM_011515752.1:c.1611_1613del (CFTR) | XP_011514054.1:p.Phe538del | |
| XM_011515753.1:c.1278_1280del (CFTR) | XP_011514055.1:p.Phe427del | |
| XM_011515754.1:c.1278_1280del (CFTR) | XP_011514056.1:p.Phe427del | |
| NR_149084.1:n.221+1140_221+1142del (CFTR-AS1) | ||
| NM_000492.4:c.1521_1523del (CFTR) MANE Select | NP_000483.3:p.Phe508del |