Linked Data
ClinVar Variation Id:
200812
ClinVar RCV Id:
RCV000182073
RCV000472516
RCV000618365
RCV001103008
RCV001103010
RCV001103009
RCV001103011
RCV001842867
RCV001701547
dbSNP Id:
rs370676650
ExAC:
11:2683273 A / G
gnomAD v2:
11-2683273-A-G
gnomAD v3:
11-2662043-A-G
gnomAD v4:
11-2662043-A-G
PubMed:
PMID:12402336
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.2662043A>G , CM000673.2:g.2662043A>G | GRCh38 |
| NC_000011.9:g.2683273A>G , CM000673.1:g.2683273A>G | GRCh37 |
| NC_000011.8:g.2639849A>G | NCBI36 |
| NG_008935.1:g.222053A>G , LRG_287:g.222053A>G | |
| NG_016178.2:g.42956T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000496887.7:c.1119A>G (KCNQ1) | ENSP00000434560.2:p.Glu373= | |
| ENST00000646564.2:c.936A>G (KCNQ1) | ENSP00000495806.2:p.Glu312= | |
| ENST00000155840.12:c.1476A>G (KCNQ1) MANE Select | ENSP00000155840.2:p.Glu492= | |
| ENST00000335475.6:c.1095A>G (KCNQ1) | ENSP00000334497.5:p.Glu365= | |
| ENST00000646564.1:c.582A>G (KCNQ1) | ENSP00000495806.1:p.Glu194= | |
| ENST00000155840.9:c.1476A>G (KCNQ1) | ENSP00000155840.2:p.Glu492= | |
| ENST00000335475.5:c.1095A>G (KCNQ1) | ENSP00000334497.5:p.Glu365= | |
| NM_000218.2:c.1476A>G , LRG_287t1:c.1476A>G (KCNQ1) | NP_000209.2:p.Glu492= | |
| NM_181798.1:c.1095A>G , LRG_287t2:c.1095A>G (KCNQ1) | NP_861463.1:p.Glu365= | |
| NR_002728.3:n.37956T>C (KCNQ1OT1) | ||
| NM_000218.3:c.1476A>G (KCNQ1) MANE Select | NP_000209.2:p.Glu492= |