COSMIC:
COSM3765561 (not active)
COSM3765562 (not active)
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.25789131 (NFE)
Genomes Max Group AF
0.25374948 (NFE)
Exomes Max Group AF
0.2579752 (NFE)
ClinVar RCV:
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.2847958C>T , CM000673.2:g.2847958C>T | GRCh38 |
| NC_000011.9:g.2869188C>T , CM000673.1:g.2869188C>T | GRCh37 |
| NC_000011.8:g.2825764C>T | NCBI36 |
| NG_008935.1:g.407968C>T , LRG_287:g.407968C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000496887.7:c.1629C>T (KCNQ1) | ENSP00000434560.2:p.Tyr543= | |
| ENST00000155840.12:c.1986C>T (KCNQ1) MANE Select | ENSP00000155840.2:p.Tyr662= | |
| ENST00000335475.6:c.1605C>T (KCNQ1) | ENSP00000334497.5:p.Tyr535= | |
| ENST00000526095.2:c.390C>T (KCNQ1) | ENSP00000494939.1:p.Tyr130= | |
| ENST00000155840.9:c.1986C>T (KCNQ1) | ENSP00000155840.2:p.Tyr662= | |
| ENST00000335475.5:c.1605C>T (KCNQ1) | ENSP00000334497.5:p.Tyr535= | |
| ENST00000526095.1:n.493C>T (KCNQ1) | ||
| NM_000218.2:c.1986C>T , LRG_287t1:c.1986C>T (KCNQ1) | NP_000209.2:p.Tyr662= | |
| NM_181798.1:c.1605C>T , LRG_287t2:c.1605C>T (KCNQ1) | NP_861463.1:p.Tyr535= | |
| NR_130721.1:n.778-7516G>A (KCNQ1-AS1) | ||
| NM_000218.3:c.1986C>T (KCNQ1) MANE Select | NP_000209.2:p.Tyr662= |