Linked Data
ClinVar Variation Id:
200864
ClinVar RCV Id:
RCV000259965
RCV000301137
RCV000355003
RCV000455796
RCV000539698
RCV000767094
RCV001842874
RCV002415772
dbSNP Id:
rs11601907
ExAC:
11:2869188 C / G
gnomAD v2:
11-2869188-C-G
gnomAD v3:
11-2847958-C-G
gnomAD v4:
11-2847958-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.2847958C>G , CM000673.2:g.2847958C>G | GRCh38 |
| NC_000011.9:g.2869188C>G , CM000673.1:g.2869188C>G | GRCh37 |
| NC_000011.8:g.2825764C>G | NCBI36 |
| NG_008935.1:g.407968C>G , LRG_287:g.407968C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000496887.7:c.1629C>G (KCNQ1) | ENSP00000434560.2:p.Tyr543Ter | |
| ENST00000155840.12:c.1986C>G (KCNQ1) MANE Select | ENSP00000155840.2:p.Tyr662Ter | |
| ENST00000335475.6:c.1605C>G (KCNQ1) | ENSP00000334497.5:p.Tyr535Ter | |
| ENST00000526095.2:c.390C>G (KCNQ1) | ENSP00000494939.1:p.Tyr130Ter | |
| ENST00000155840.9:c.1986C>G (KCNQ1) | ENSP00000155840.2:p.Tyr662Ter | |
| ENST00000335475.5:c.1605C>G (KCNQ1) | ENSP00000334497.5:p.Tyr535Ter | |
| ENST00000526095.1:n.493C>G (KCNQ1) | ||
| NM_000218.2:c.1986C>G , LRG_287t1:c.1986C>G (KCNQ1) | NP_000209.2:p.Tyr662Ter | |
| NM_181798.1:c.1605C>G , LRG_287t2:c.1605C>G (KCNQ1) | NP_861463.1:p.Tyr535Ter | |
| NR_130721.1:n.778-7516G>C (KCNQ1-AS1) | ||
| NM_000218.3:c.1986C>G (KCNQ1) MANE Select | NP_000209.2:p.Tyr662Ter |