gnomAD v4:
Joint Max Group AF
0.00000515 (SAS)
Exomes Max Group AF
0.00000556 (SAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.2848935A>T , CM000673.2:g.2848935A>T | GRCh38 |
| NC_000011.9:g.2870165A>T , CM000673.1:g.2870165A>T | GRCh37 |
| NC_000011.8:g.2826741A>T | NCBI36 |
| NG_008935.1:g.408945A>T , LRG_287:g.408945A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000496887.7:c.*932A>T (KCNQ1) | ENSP00000434560.2:n.*932A>T | |
| ENST00000155840.12:c.*932A>T (KCNQ1) MANE Select | ENSP00000155840.2:n.*932A>T | |
| ENST00000335475.6:c.*932A>T (KCNQ1) | ENSP00000334497.5:n.*932A>T | |
| ENST00000155840.9:c.*932A>T (KCNQ1) | ENSP00000155840.2:n.*932A>T | |
| NM_000218.2:c.*932A>T , LRG_287t1:c.*932A>T (KCNQ1) | NP_000209.2:n.*932A>T | |
| NM_181798.1:c.*932A>T , LRG_287t2:c.*932A>T (KCNQ1) | NP_861463.1:n.*932A>T | |
| NR_130721.1:n.778-8493T>A (KCNQ1-AS1) | ||
| NM_000218.3:c.*932A>T (KCNQ1) MANE Select | NP_000209.2:n.*932A>T |