Linked Data
ClinVar Variation Id:
53229
ClinVar RCV Id:
RCV000046274
RCV000078976
RCV000150335
RCV001004444
RCV001009469
RCV003473449
RCV002256030
dbSNP Id:
rs147422190
ExAC:
7:117188812 G / T
gnomAD v2:
7-117188812-G-T
gnomAD v3:
7-117548758-G-T
gnomAD v4:
7-117548758-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.117548758G>T , CM000669.2:g.117548758G>T | GRCh38 |
| NC_000007.13:g.117188812G>T , CM000669.1:g.117188812G>T | GRCh37 |
| NC_000007.12:g.116976048G>T | NCBI36 |
| NG_016465.4:g.87975G>T , LRG_663:g.87975G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000647720.2:c.1327G>T (CFTR) | ENSP00000497673.2:p.Asp443Tyr | |
| ENST00000647978.2:c.*1106+6650G>T (CFTR) | ENSP00000497658.1:n.*1106+6650G>T | |
| ENST00000649781.2:c.1209+6650G>T (CFTR) | ENSP00000497203.1:n.1209+6650G>T | |
| ENST00000685018.2:c.1327G>T (CFTR) | ENSP00000510194.2:p.Asp443Tyr | |
| ENST00000687278.2:c.1327G>T (CFTR) | ENSP00000509593.2:p.Asp443Tyr | |
| ENST00000699585.1:c.1327G>T (CFTR) | ENSP00000514456.1:p.Asp443Tyr | |
| ENST00000699596.1:c.1327G>T (CFTR) | ENSP00000514465.1:p.Asp443Tyr | |
| ENST00000699597.1:c.1327G>T (CFTR) | ENSP00000514466.1:p.Asp443Tyr | |
| ENST00000699598.1:c.1327G>T (CFTR) | ENSP00000514467.1:p.Asp443Tyr | |
| ENST00000699599.1:c.1327G>T (CFTR) | ENSP00000514468.1:p.Asp443Tyr | |
| ENST00000699600.1:c.1327G>T (CFTR) | ENSP00000514469.1:p.Asp443Tyr | |
| ENST00000699601.1:c.1327G>T (CFTR) | ENSP00000514470.1:p.Asp443Tyr | |
| ENST00000699602.1:c.1327G>T (CFTR) | ENSP00000514471.1:p.Asp443Tyr | |
| ENST00000699604.1:c.*1151G>T (CFTR) | ENSP00000514472.1:n.*1151G>T | |
| ENST00000699605.1:c.966+6650G>T (CFTR) | ENSP00000514473.1:n.966+6650G>T | |
| ENST00000003084.11:c.1327G>T (CFTR) MANE Select | ENSP00000003084.6:p.Asp443Tyr | |
| ENST00000647978.1:c.*1106+6650G>T (CFTR) | ENSP00000497658.1:n.*1106+6650G>T | |
| ENST00000648260.1:c.1209+6650G>T (CFTR) | ENSP00000497957.1:n.1209+6650G>T | |
| ENST00000649406.1:c.1209+6650G>T (CFTR) | ENSP00000497965.1:n.1209+6650G>T | |
| ENST00000649781.1:c.1209+6650G>T (CFTR) | ENSP00000497203.1:n.1209+6650G>T | |
| ENST00000003084.10:c.1327G>T (CFTR) | ENSP00000003084.6:p.Asp443Tyr | |
| ENST00000426809.5:c.1237G>T (CFTR) | ENSP00000389119.1:p.Asp413Tyr | |
| NM_000492.3:c.1327G>T , LRG_663t1:c.1327G>T (CFTR) | NP_000483.3:p.Asp443Tyr | |
| XM_011515751.1:c.1417G>T (CFTR) | XP_011514053.1:p.Asp473Tyr | |
| XM_011515752.1:c.1417G>T (CFTR) | XP_011514054.1:p.Asp473Tyr | |
| XM_011515753.1:c.1084G>T (CFTR) | XP_011514055.1:p.Asp362Tyr | |
| XM_011515754.1:c.1084G>T (CFTR) | XP_011514056.1:p.Asp362Tyr | |
| NR_149084.1:n.222-6219C>A (CFTR-AS1) | ||
| NM_000492.4:c.1327G>T (CFTR) MANE Select | NP_000483.3:p.Asp443Tyr |