Linked Data
dbSNP Id:
rs10487372
gnomAD v2:
7-117200899-C-T
gnomAD v3:
7-117560845-C-T
gnomAD v4:
7-117560845-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.117560845C>T , CM000669.2:g.117560845C>T | GRCh38 |
| NC_000007.13:g.117200899C>T , CM000669.1:g.117200899C>T | GRCh37 |
| NC_000007.12:g.116988135C>T | NCBI36 |
| NG_016465.4:g.100062C>T , LRG_663:g.100062C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000647720.2:c.1584+1190C>T (CFTR) | ENSP00000497673.2:n.1584+1190C>T | |
| ENST00000647978.2:c.*1298+1190C>T (CFTR) | ENSP00000497658.1:n.*1298+1190C>T | |
| ENST00000649781.2:c.1401+1190C>T (CFTR) | ENSP00000497203.1:n.1401+1190C>T | |
| ENST00000685018.2:c.1584+1190C>T (CFTR) | ENSP00000510194.2:n.1584+1190C>T | |
| ENST00000687278.2:c.1584+1190C>T (CFTR) | ENSP00000509593.2:n.1584+1190C>T | |
| ENST00000699585.1:c.1584+1190C>T (CFTR) | ENSP00000514456.1:n.1584+1190C>T | |
| ENST00000699598.1:c.1584+1190C>T (CFTR) | ENSP00000514467.1:n.1584+1190C>T | |
| ENST00000699599.1:c.1584+1190C>T (CFTR) | ENSP00000514468.1:n.1584+1190C>T | |
| ENST00000699600.1:c.1584+1190C>T (CFTR) | ENSP00000514469.1:n.1584+1190C>T | |
| ENST00000699601.1:c.1584+1190C>T (CFTR) | ENSP00000514470.1:n.1584+1190C>T | |
| ENST00000699602.1:c.1584+1190C>T (CFTR) | ENSP00000514471.1:n.1584+1190C>T | |
| ENST00000699604.1:c.*1408+1190C>T (CFTR) | ENSP00000514472.1:n.*1408+1190C>T | |
| ENST00000699605.1:c.1158+1190C>T (CFTR) | ENSP00000514473.1:n.1158+1190C>T | |
| ENST00000003084.11:c.1584+1190C>T (CFTR) MANE Select | ENSP00000003084.6:n.1584+1190C>T | |
| ENST00000647978.1:c.*1298+1190C>T (CFTR) | ENSP00000497658.1:n.*1298+1190C>T | |
| ENST00000648260.1:c.1401+1190C>T (CFTR) | ENSP00000497957.1:n.1401+1190C>T | |
| ENST00000649406.1:c.1401+1190C>T (CFTR) | ENSP00000497965.1:n.1401+1190C>T | |
| ENST00000649781.1:c.1401+1190C>T (CFTR) | ENSP00000497203.1:n.1401+1190C>T | |
| ENST00000003084.10:c.1584+1190C>T (CFTR) | ENSP00000003084.6:n.1584+1190C>T | |
| ENST00000426809.5:c.1494+1190C>T (CFTR) | ENSP00000389119.1:n.1494+1190C>T | |
| ENST00000472848.1:n.18+1190C>T (CFTR) | ||
| NM_000492.3:c.1584+1190C>T , LRG_663t1:c.1584+1190C>T (CFTR) | NP_000483.3:n.1584+1190C>T | |
| XM_011515751.1:c.1674+1190C>T (CFTR) | XP_011514053.1:n.1674+1190C>T | |
| XM_011515752.1:c.1674+1190C>T (CFTR) | XP_011514054.1:n.1674+1190C>T | |
| XM_011515753.1:c.1341+1190C>T (CFTR) | XP_011514055.1:n.1341+1190C>T | |
| XM_011515754.1:c.1341+1190C>T (CFTR) | XP_011514056.1:n.1341+1190C>T | |
| NR_149084.1:n.162-53G>A (CFTR-AS1) | ||
| NM_000492.4:c.1584+1190C>T (CFTR) MANE Select | NP_000483.3:n.1584+1190C>T |