Linked Data
ClinVar Variation Id:
218432
dbSNP Id:
rs552087428
ExAC:
11:2869172 A / G
gnomAD v2:
11-2869172-A-G
gnomAD v3:
11-2847942-A-G
gnomAD v4:
11-2847942-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.2847942A>G , CM000673.2:g.2847942A>G | GRCh38 |
| NC_000011.9:g.2869172A>G , CM000673.1:g.2869172A>G | GRCh37 |
| NC_000011.8:g.2825748A>G | NCBI36 |
| NG_008935.1:g.407952A>G , LRG_287:g.407952A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000496887.7:c.1613A>G (KCNQ1) | ENSP00000434560.2:p.Asn538Ser | |
| ENST00000155840.12:c.1970A>G (KCNQ1) MANE Select | ENSP00000155840.2:p.Asn657Ser | |
| ENST00000335475.6:c.1589A>G (KCNQ1) | ENSP00000334497.5:p.Asn530Ser | |
| ENST00000526095.2:c.374A>G (KCNQ1) | ENSP00000494939.1:p.Asn125Ser | |
| ENST00000155840.9:c.1970A>G (KCNQ1) | ENSP00000155840.2:p.Asn657Ser | |
| ENST00000335475.5:c.1589A>G (KCNQ1) | ENSP00000334497.5:p.Asn530Ser | |
| ENST00000526095.1:n.477A>G (KCNQ1) | ||
| NM_000218.2:c.1970A>G , LRG_287t1:c.1970A>G (KCNQ1) | NP_000209.2:p.Asn657Ser | |
| NM_181798.1:c.1589A>G , LRG_287t2:c.1589A>G (KCNQ1) | NP_861463.1:p.Asn530Ser | |
| NR_130721.1:n.778-7500T>C (KCNQ1-AS1) | ||
| NM_000218.3:c.1970A>G (KCNQ1) MANE Select | NP_000209.2:p.Asn657Ser |