Revel Score:
ENST00000155840 (MANE Select)
0.882
ENST00000335475
0.882
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.2847777T>C , CM000673.2:g.2847777T>C | GRCh38 |
| NC_000011.9:g.2869007T>C , CM000673.1:g.2869007T>C | GRCh37 |
| NC_000011.8:g.2825583T>C | NCBI36 |
| NG_008935.1:g.407787T>C , LRG_287:g.407787T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000496887.7:c.1448T>C (KCNQ1) | ENSP00000434560.2:p.Leu483Pro | |
| ENST00000155840.12:c.1805T>C (KCNQ1) MANE Select | ENSP00000155840.2:p.Leu602Pro | |
| ENST00000335475.6:c.1424T>C (KCNQ1) | ENSP00000334497.5:p.Leu475Pro | |
| ENST00000526095.2:c.209T>C (KCNQ1) | ENSP00000494939.1:p.Leu70Pro | |
| ENST00000155840.9:c.1805T>C (KCNQ1) | ENSP00000155840.2:p.Leu602Pro | |
| ENST00000335475.5:c.1424T>C (KCNQ1) | ENSP00000334497.5:p.Leu475Pro | |
| ENST00000526095.1:n.312T>C (KCNQ1) | ||
| NM_000218.2:c.1805T>C , LRG_287t1:c.1805T>C (KCNQ1) | NP_000209.2:p.Leu602Pro | |
| NM_181798.1:c.1424T>C , LRG_287t2:c.1424T>C (KCNQ1) | NP_861463.1:p.Leu475Pro | |
| NR_130721.1:n.778-7335A>G (KCNQ1-AS1) | ||
| NM_000218.3:c.1805T>C (KCNQ1) MANE Select | NP_000209.2:p.Leu602Pro |