Linked Data
ClinVar Variation Id:
53285
dbSNP Id:
rs397508230
gnomAD v2:
7-117199710-G-A
gnomAD v3:
7-117559656-G-A
gnomAD v4:
7-117559656-G-A
PubMed:
PMID:23974870
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.117559656G>A , CM000669.2:g.117559656G>A | GRCh38 |
| NC_000007.13:g.117199710G>A , CM000669.1:g.117199710G>A | GRCh37 |
| NC_000007.12:g.116986946G>A | NCBI36 |
| NG_016465.4:g.98873G>A , LRG_663:g.98873G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000647720.2:c.1584+1G>A (CFTR) | ENSP00000497673.2:n.1584+1G>A | |
| ENST00000647978.2:c.*1298+1G>A (CFTR) | ENSP00000497658.1:n.*1298+1G>A | |
| ENST00000649781.2:c.1401+1G>A (CFTR) | ENSP00000497203.1:n.1401+1G>A | |
| ENST00000685018.2:c.1584+1G>A (CFTR) | ENSP00000510194.2:n.1584+1G>A | |
| ENST00000687278.2:c.1584+1G>A (CFTR) | ENSP00000509593.2:n.1584+1G>A | |
| ENST00000699585.1:c.1584+1G>A (CFTR) | ENSP00000514456.1:n.1584+1G>A | |
| ENST00000699596.1:c.1585G>A (CFTR) | ENSP00000514465.1:p.Val529Ile | |
| ENST00000699597.1:c.*143G>A (CFTR) | ENSP00000514466.1:n.*143G>A | |
| ENST00000699598.1:c.1584+1G>A (CFTR) | ENSP00000514467.1:n.1584+1G>A | |
| ENST00000699599.1:c.1584+1G>A (CFTR) | ENSP00000514468.1:n.1584+1G>A | |
| ENST00000699600.1:c.1584+1G>A (CFTR) | ENSP00000514469.1:n.1584+1G>A | |
| ENST00000699601.1:c.1584+1G>A (CFTR) | ENSP00000514470.1:n.1584+1G>A | |
| ENST00000699602.1:c.1584+1G>A (CFTR) | ENSP00000514471.1:n.1584+1G>A | |
| ENST00000699604.1:c.*1408+1G>A (CFTR) | ENSP00000514472.1:n.*1408+1G>A | |
| ENST00000699605.1:c.1158+1G>A (CFTR) | ENSP00000514473.1:n.1158+1G>A | |
| ENST00000003084.11:c.1584+1G>A (CFTR) MANE Select | ENSP00000003084.6:n.1584+1G>A | |
| ENST00000647978.1:c.*1298+1G>A (CFTR) | ENSP00000497658.1:n.*1298+1G>A | |
| ENST00000648260.1:c.1401+1G>A (CFTR) | ENSP00000497957.1:n.1401+1G>A | |
| ENST00000649406.1:c.1401+1G>A (CFTR) | ENSP00000497965.1:n.1401+1G>A | |
| ENST00000649781.1:c.1401+1G>A (CFTR) | ENSP00000497203.1:n.1401+1G>A | |
| ENST00000003084.10:c.1584+1G>A (CFTR) | ENSP00000003084.6:n.1584+1G>A | |
| ENST00000426809.5:c.1494+1G>A (CFTR) | ENSP00000389119.1:n.1494+1G>A | |
| ENST00000472848.1:n.18+1G>A (CFTR) | ||
| NM_000492.3:c.1584+1G>A , LRG_663t1:c.1584+1G>A (CFTR) | NP_000483.3:n.1584+1G>A | |
| XM_011515751.1:c.1674+1G>A (CFTR) | XP_011514053.1:n.1674+1G>A | |
| XM_011515752.1:c.1674+1G>A (CFTR) | XP_011514054.1:n.1674+1G>A | |
| XM_011515753.1:c.1341+1G>A (CFTR) | XP_011514055.1:n.1341+1G>A | |
| XM_011515754.1:c.1341+1G>A (CFTR) | XP_011514056.1:n.1341+1G>A | |
| NR_149084.1:n.221+1077C>T (CFTR-AS1) | ||
| NM_000492.4:c.1584+1G>A (CFTR) MANE Select | NP_000483.3:n.1584+1G>A |