Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.2849002G= , CM000673.2:g.2849002G= | GRCh38 |
| NC_000011.9:g.2870232G= , CM000673.1:g.2870232G= | GRCh37 |
| NC_000011.8:g.2826808G= | NCBI36 |
| NG_008935.1:g.409012G= , LRG_287:g.409012G= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000155840.12:c.*999G= (KCNQ1) MANE Select | ENSP00000155840.2:n.*999G= | |
| ENST00000155840.9:c.*999G= (KCNQ1) | ENSP00000155840.2:n.*999G= | |
| NM_000218.2:c.*999G= , LRG_287t1:c.*999G= (KCNQ1) | NP_000209.2:n.*999G= | |
| NM_181798.1:c.*999G= , LRG_287t2:c.*999G= (KCNQ1) | NP_861463.1:n.*999G= | |
| NR_130721.1:n.778-8560C= (KCNQ1-AS1) | ||
| NM_000218.3:c.*999G= (KCNQ1) MANE Select | NP_000209.2:n.*999G= |