Linked Data
ClinVar Variation Id:
7111
ClinVar RCV Id:
RCV000007531
RCV000763569
RCV000660853
RCV001004446
RCV001530091
RCV001826427
RCV003473003
dbSNP Id:
rs74551128
ExAC:
7:117188849 C / A
gnomAD v2:
7-117188849-C-A
gnomAD v3:
7-117548795-C-A
gnomAD v4:
7-117548795-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.117548795C>A , CM000669.2:g.117548795C>A | GRCh38 |
| NC_000007.13:g.117188849C>A , CM000669.1:g.117188849C>A | GRCh37 |
| NC_000007.12:g.116976085C>A | NCBI36 |
| NG_016465.4:g.88012C>A , LRG_663:g.88012C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000647720.2:c.1364C>A (CFTR) | ENSP00000497673.2:p.Ala455Glu | |
| ENST00000647978.2:c.*1106+6687C>A (CFTR) | ENSP00000497658.1:n.*1106+6687C>A | |
| ENST00000649781.2:c.1209+6687C>A (CFTR) | ENSP00000497203.1:n.1209+6687C>A | |
| ENST00000685018.2:c.1364C>A (CFTR) | ENSP00000510194.2:p.Ala455Glu | |
| ENST00000687278.2:c.1364C>A (CFTR) | ENSP00000509593.2:p.Ala455Glu | |
| ENST00000699585.1:c.1364C>A (CFTR) | ENSP00000514456.1:p.Ala455Glu | |
| ENST00000699596.1:c.1364C>A (CFTR) | ENSP00000514465.1:p.Ala455Glu | |
| ENST00000699597.1:c.1364C>A (CFTR) | ENSP00000514466.1:p.Ala455Glu | |
| ENST00000699598.1:c.1364C>A (CFTR) | ENSP00000514467.1:p.Ala455Glu | |
| ENST00000699599.1:c.1364C>A (CFTR) | ENSP00000514468.1:p.Ala455Glu | |
| ENST00000699600.1:c.1364C>A (CFTR) | ENSP00000514469.1:p.Ala455Glu | |
| ENST00000699601.1:c.1364C>A (CFTR) | ENSP00000514470.1:p.Ala455Glu | |
| ENST00000699602.1:c.1364C>A (CFTR) | ENSP00000514471.1:p.Ala455Glu | |
| ENST00000699604.1:c.*1188C>A (CFTR) | ENSP00000514472.1:n.*1188C>A | |
| ENST00000699605.1:c.966+6687C>A (CFTR) | ENSP00000514473.1:n.966+6687C>A | |
| ENST00000003084.11:c.1364C>A (CFTR) MANE Select | ENSP00000003084.6:p.Ala455Glu | |
| ENST00000647978.1:c.*1106+6687C>A (CFTR) | ENSP00000497658.1:n.*1106+6687C>A | |
| ENST00000648260.1:c.1209+6687C>A (CFTR) | ENSP00000497957.1:n.1209+6687C>A | |
| ENST00000649406.1:c.1209+6687C>A (CFTR) | ENSP00000497965.1:n.1209+6687C>A | |
| ENST00000649781.1:c.1209+6687C>A (CFTR) | ENSP00000497203.1:n.1209+6687C>A | |
| ENST00000003084.10:c.1364C>A (CFTR) | ENSP00000003084.6:p.Ala455Glu | |
| ENST00000426809.5:c.1274C>A (CFTR) | ENSP00000389119.1:p.Ala425Glu | |
| NM_000492.3:c.1364C>A , LRG_663t1:c.1364C>A (CFTR) | NP_000483.3:p.Ala455Glu | |
| XM_011515751.1:c.1454C>A (CFTR) | XP_011514053.1:p.Ala485Glu | |
| XM_011515752.1:c.1454C>A (CFTR) | XP_011514054.1:p.Ala485Glu | |
| XM_011515753.1:c.1121C>A (CFTR) | XP_011514055.1:p.Ala374Glu | |
| XM_011515754.1:c.1121C>A (CFTR) | XP_011514056.1:p.Ala374Glu | |
| NR_149084.1:n.222-6256G>T (CFTR-AS1) | ||
| NM_000492.4:c.1364C>A (CFTR) MANE Select | NP_000483.3:p.Ala455Glu |