Revel Score:
ENST00000155840 (MANE Select)
0.467
ENST00000335475
0.467
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.2847914G>C , CM000673.2:g.2847914G>C | GRCh38 |
| NC_000011.9:g.2869144G>C , CM000673.1:g.2869144G>C | GRCh37 |
| NC_000011.8:g.2825720G>C | NCBI36 |
| NG_008935.1:g.407924G>C , LRG_287:g.407924G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000496887.7:c.1585G>C (KCNQ1) | ENSP00000434560.2:p.Val529Leu | |
| ENST00000155840.12:c.1942G>C (KCNQ1) MANE Select | ENSP00000155840.2:p.Val648Leu | |
| ENST00000335475.6:c.1561G>C (KCNQ1) | ENSP00000334497.5:p.Val521Leu | |
| ENST00000526095.2:c.346G>C (KCNQ1) | ENSP00000494939.1:p.Val116Leu | |
| ENST00000155840.9:c.1942G>C (KCNQ1) | ENSP00000155840.2:p.Val648Leu | |
| ENST00000335475.5:c.1561G>C (KCNQ1) | ENSP00000334497.5:p.Val521Leu | |
| ENST00000526095.1:n.449G>C (KCNQ1) | ||
| NM_000218.2:c.1942G>C , LRG_287t1:c.1942G>C (KCNQ1) | NP_000209.2:p.Val648Leu | |
| NM_181798.1:c.1561G>C , LRG_287t2:c.1561G>C (KCNQ1) | NP_861463.1:p.Val521Leu | |
| NR_130721.1:n.778-7472C>G (KCNQ1-AS1) | ||
| NM_000218.3:c.1942G>C (KCNQ1) MANE Select | NP_000209.2:p.Val648Leu |