Linked Data
ClinVar Variation Id:
304268
dbSNP Id:
rs10798
ExAC:
11:2870165 A / G
gnomAD v2:
11-2870165-A-G
gnomAD v3:
11-2848935-A-G
gnomAD v4:
11-2848935-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.2848935A>G , CM000673.2:g.2848935A>G | GRCh38 |
| NC_000011.9:g.2870165A>G , CM000673.1:g.2870165A>G | GRCh37 |
| NC_000011.8:g.2826741A>G | NCBI36 |
| NG_008935.1:g.408945A>G , LRG_287:g.408945A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000496887.7:c.*932A>G (KCNQ1) | ENSP00000434560.2:n.*932A>G | |
| ENST00000155840.12:c.*932A>G (KCNQ1) MANE Select | ENSP00000155840.2:n.*932A>G | |
| ENST00000335475.6:c.*932A>G (KCNQ1) | ENSP00000334497.5:n.*932A>G | |
| ENST00000155840.9:c.*932A>G (KCNQ1) | ENSP00000155840.2:n.*932A>G | |
| NM_000218.2:c.*932A>G , LRG_287t1:c.*932A>G (KCNQ1) | NP_000209.2:n.*932A>G | |
| NM_181798.1:c.*932A>G , LRG_287t2:c.*932A>G (KCNQ1) | NP_861463.1:n.*932A>G | |
| NR_130721.1:n.778-8493T>C (KCNQ1-AS1) | ||
| NM_000218.3:c.*932A>G (KCNQ1) MANE Select | NP_000209.2:n.*932A>G |