gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.22613261 (AMR)
Genomes Max Group AF
0.16483237 (AMR)
Exomes Max Group AF
0.2582467 (AMR)
ClinVar RCV:
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.2848482G>A , CM000673.2:g.2848482G>A | GRCh38 |
| NC_000011.9:g.2869712G>A , CM000673.1:g.2869712G>A | GRCh37 |
| NC_000011.8:g.2826288G>A | NCBI36 |
| NG_008935.1:g.408492G>A , LRG_287:g.408492G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000496887.7:c.*479G>A (KCNQ1) | ENSP00000434560.2:n.*479G>A | |
| ENST00000155840.12:c.*479G>A (KCNQ1) MANE Select | ENSP00000155840.2:n.*479G>A | |
| ENST00000335475.6:c.*479G>A (KCNQ1) | ENSP00000334497.5:n.*479G>A | |
| ENST00000155840.9:c.*479G>A (KCNQ1) | ENSP00000155840.2:n.*479G>A | |
| ENST00000526095.1:n.1017G>A (KCNQ1) | ||
| NM_000218.2:c.*479G>A , LRG_287t1:c.*479G>A (KCNQ1) | NP_000209.2:n.*479G>A | |
| NM_181798.1:c.*479G>A , LRG_287t2:c.*479G>A (KCNQ1) | NP_861463.1:n.*479G>A | |
| NR_130721.1:n.778-8040C>T (KCNQ1-AS1) | ||
| NM_000218.3:c.*479G>A (KCNQ1) MANE Select | NP_000209.2:n.*479G>A |