Linked Data
ClinVar Variation Id:
487376
dbSNP Id:
rs1235397597
gnomAD v2:
7-117188693-AG-A
gnomAD v4:
7-117548639-AG-A
MyVariant Identifiers:
chr7:g.117188696del (hg19)
chr7:g.117188694del (hg19)
chr7:g.117548642del (hg38)
chr7:g.117548640del (hg38)
PubMed:
PMID:23974870
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.117548642del , CM000669.2:g.117548642del | GRCh38 |
| NC_000007.13:g.117188696del , CM000669.1:g.117188696del | GRCh37 |
| NC_000007.12:g.116975932del | NCBI36 |
| NG_016465.4:g.87859del , LRG_663:g.87859del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000647720.2:c.1211del (CFTR) | ||
| ENST00000647978.2:c.*1106+6534del (CFTR) | ENSP00000497658.1:n.*1106+6534del | |
| ENST00000649781.2:c.1209+6534del (CFTR) | ENSP00000497203.1:n.1209+6534del | |
| ENST00000685018.2:c.1211del (CFTR) | ||
| ENST00000687278.2:c.1211del (CFTR) | ||
| ENST00000699585.1:c.1211del (CFTR) | ||
| ENST00000699596.1:c.1211del (CFTR) | ||
| ENST00000699597.1:c.1211del (CFTR) | ||
| ENST00000699598.1:c.1211del (CFTR) | ||
| ENST00000699599.1:c.1211del (CFTR) | ||
| ENST00000699600.1:c.1211del (CFTR) | ||
| ENST00000699601.1:c.1211del (CFTR) | ||
| ENST00000699602.1:c.1211del (CFTR) | ||
| ENST00000699604.1:c.*1035del (CFTR) | ||
| ENST00000699605.1:c.966+6534del (CFTR) | ENSP00000514473.1:n.966+6534del | |
| ENST00000003084.11:c.1211del (CFTR) | ||
| ENST00000647978.1:c.*1106+6534del (CFTR) | ENSP00000497658.1:n.*1106+6534del | |
| ENST00000648260.1:c.1209+6534del (CFTR) | ENSP00000497957.1:n.1209+6534del | |
| ENST00000649406.1:c.1209+6534del (CFTR) | ENSP00000497965.1:n.1209+6534del | |
| ENST00000649781.1:c.1209+6534del (CFTR) | ENSP00000497203.1:n.1209+6534del | |
| ENST00000673785.1:c.968del (CFTR) | ||
| ENST00000003084.10:c.1211del (CFTR) | ||
| ENST00000426809.5:c.1121del (CFTR) | ||
| NM_000492.3:c.1211del , LRG_663t1:c.1211del (CFTR) | ||
| XM_011515751.1:c.1301del (CFTR) | ||
| XM_011515752.1:c.1301del (CFTR) | ||
| XM_011515753.1:c.968del (CFTR) | ||
| XM_011515754.1:c.968del (CFTR) | ||
| NR_149084.1:n.222-6101del (CFTR-AS1) | ||
| NM_000492.4:c.1211del (CFTR) |