Linked Data
ClinVar Variation Id:
7126
ClinVar RCV Id:
RCV000007546
RCV000078978
RCV001009496
RCV001327947
RCV001281707
RCV001642200
RCV002255993
dbSNP Id:
rs74571530
ExAC:
7:117199648 T / G
gnomAD v2:
7-117199648-T-G
gnomAD v3:
7-117559594-T-G
gnomAD v4:
7-117559594-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.117559594T>G , CM000669.2:g.117559594T>G | GRCh38 |
| NC_000007.13:g.117199648T>G , CM000669.1:g.117199648T>G | GRCh37 |
| NC_000007.12:g.116986884T>G | NCBI36 |
| NG_016465.4:g.98811T>G , LRG_663:g.98811T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000647720.2:c.1523T>G (CFTR) | ENSP00000497673.2:p.Phe508Cys | |
| ENST00000647978.2:c.*1237T>G (CFTR) | ENSP00000497658.1:n.*1237T>G | |
| ENST00000649781.2:c.1340T>G (CFTR) | ENSP00000497203.1:p.Phe447Cys | |
| ENST00000685018.2:c.1523T>G (CFTR) | ENSP00000510194.2:p.Phe508Cys | |
| ENST00000687278.2:c.1523T>G (CFTR) | ENSP00000509593.2:p.Phe508Cys | |
| ENST00000699585.1:c.1523T>G (CFTR) | ENSP00000514456.1:p.Phe508Cys | |
| ENST00000699596.1:c.1523T>G (CFTR) | ENSP00000514465.1:p.Phe508Cys | |
| ENST00000699597.1:c.*81T>G (CFTR) | ENSP00000514466.1:n.*81T>G | |
| ENST00000699598.1:c.1523T>G (CFTR) | ENSP00000514467.1:p.Phe508Cys | |
| ENST00000699599.1:c.1523T>G (CFTR) | ENSP00000514468.1:p.Phe508Cys | |
| ENST00000699600.1:c.1523T>G (CFTR) | ENSP00000514469.1:p.Phe508Cys | |
| ENST00000699601.1:c.1523T>G (CFTR) | ENSP00000514470.1:p.Phe508Cys | |
| ENST00000699602.1:c.1523T>G (CFTR) | ENSP00000514471.1:p.Phe508Cys | |
| ENST00000699604.1:c.*1347T>G (CFTR) | ENSP00000514472.1:n.*1347T>G | |
| ENST00000699605.1:c.1097T>G (CFTR) | ENSP00000514473.1:p.Phe366Cys | |
| ENST00000003084.11:c.1523T>G (CFTR) MANE Select | ENSP00000003084.6:p.Phe508Cys | |
| ENST00000647978.1:c.*1237T>G (CFTR) | ENSP00000497658.1:n.*1237T>G | |
| ENST00000648260.1:c.1340T>G (CFTR) | ENSP00000497957.1:p.Phe447Cys | |
| ENST00000649406.1:c.1340T>G (CFTR) | ENSP00000497965.1:p.Phe447Cys | |
| ENST00000649781.1:c.1340T>G (CFTR) | ENSP00000497203.1:p.Phe447Cys | |
| ENST00000003084.10:c.1523T>G (CFTR) | ENSP00000003084.6:p.Phe508Cys | |
| ENST00000426809.5:c.1433T>G (CFTR) | ENSP00000389119.1:p.Phe478Cys | |
| NM_000492.3:c.1523T>G , LRG_663t1:c.1523T>G (CFTR) | NP_000483.3:p.Phe508Cys | |
| XM_011515751.1:c.1613T>G (CFTR) | XP_011514053.1:p.Phe538Cys | |
| XM_011515752.1:c.1613T>G (CFTR) | XP_011514054.1:p.Phe538Cys | |
| XM_011515753.1:c.1280T>G (CFTR) | XP_011514055.1:p.Phe427Cys | |
| XM_011515754.1:c.1280T>G (CFTR) | XP_011514056.1:p.Phe427Cys | |
| NR_149084.1:n.221+1139A>C (CFTR-AS1) | ||
| NM_000492.4:c.1523T>G (CFTR) MANE Select | NP_000483.3:p.Phe508Cys |