Linked Data
ClinVar Variation Id:
304257
dbSNP Id:
rs189162344
ExAC:
11:2869950 T / G
gnomAD v2:
11-2869950-T-G
gnomAD v3:
11-2848720-T-G
gnomAD v4:
11-2848720-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.2848720T>G , CM000673.2:g.2848720T>G | GRCh38 |
| NC_000011.9:g.2869950T>G , CM000673.1:g.2869950T>G | GRCh37 |
| NC_000011.8:g.2826526T>G | NCBI36 |
| NG_008935.1:g.408730T>G , LRG_287:g.408730T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000496887.7:c.*717T>G (KCNQ1) | ENSP00000434560.2:n.*717T>G | |
| ENST00000155840.12:c.*717T>G (KCNQ1) MANE Select | ENSP00000155840.2:n.*717T>G | |
| ENST00000335475.6:c.*717T>G (KCNQ1) | ENSP00000334497.5:n.*717T>G | |
| ENST00000155840.9:c.*717T>G (KCNQ1) | ENSP00000155840.2:n.*717T>G | |
| NM_000218.2:c.*717T>G , LRG_287t1:c.*717T>G (KCNQ1) | NP_000209.2:n.*717T>G | |
| NM_181798.1:c.*717T>G , LRG_287t2:c.*717T>G (KCNQ1) | NP_861463.1:n.*717T>G | |
| NR_130721.1:n.778-8278A>C (KCNQ1-AS1) | ||
| NM_000218.3:c.*717T>G (KCNQ1) MANE Select | NP_000209.2:n.*717T>G |