Linked Data
ClinVar Variation Id:
67057
dbSNP Id:
rs34516117
ExAC:
11:2869001 C / T
gnomAD v2:
11-2869001-C-T
gnomAD v3:
11-2847771-C-T
gnomAD v4:
11-2847771-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.2847771C>T , CM000673.2:g.2847771C>T | GRCh38 |
| NC_000011.9:g.2869001C>T , CM000673.1:g.2869001C>T | GRCh37 |
| NC_000011.8:g.2825577C>T | NCBI36 |
| NG_008935.1:g.407781C>T , LRG_287:g.407781C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000496887.7:c.1442C>T (KCNQ1) | ENSP00000434560.2:p.Thr481Met | |
| ENST00000155840.12:c.1799C>T (KCNQ1) MANE Select | ENSP00000155840.2:p.Thr600Met | |
| ENST00000335475.6:c.1418C>T (KCNQ1) | ENSP00000334497.5:p.Thr473Met | |
| ENST00000526095.2:c.203C>T (KCNQ1) | ENSP00000494939.1:p.Thr68Met | |
| ENST00000155840.9:c.1799C>T (KCNQ1) | ENSP00000155840.2:p.Thr600Met | |
| ENST00000335475.5:c.1418C>T (KCNQ1) | ENSP00000334497.5:p.Thr473Met | |
| ENST00000526095.1:n.306C>T (KCNQ1) | ||
| NM_000218.2:c.1799C>T , LRG_287t1:c.1799C>T (KCNQ1) | NP_000209.2:p.Thr600Met | |
| NM_181798.1:c.1418C>T , LRG_287t2:c.1418C>T (KCNQ1) | NP_861463.1:p.Thr473Met | |
| NR_130721.1:n.778-7329G>A (KCNQ1-AS1) | ||
| NM_000218.3:c.1799C>T (KCNQ1) MANE Select | NP_000209.2:p.Thr600Met |