Linked Data
ClinVar Variation Id:
53022
ClinVar RCV Id:
RCV003591640
dbSNP Id:
rs199472821
gnomAD v2:
11-2869078-G-A
gnomAD v3:
11-2847848-G-A
gnomAD v4:
11-2847848-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.2847848G>A , CM000673.2:g.2847848G>A | GRCh38 |
| NC_000011.9:g.2869078G>A , CM000673.1:g.2869078G>A | GRCh37 |
| NC_000011.8:g.2825654G>A | NCBI36 |
| NG_008935.1:g.407858G>A , LRG_287:g.407858G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000496887.7:c.1519G>A (KCNQ1) | ENSP00000434560.2:p.Gly507Ser | |
| ENST00000155840.12:c.1876G>A (KCNQ1) MANE Select | ENSP00000155840.2:p.Gly626Ser | |
| ENST00000335475.6:c.1495G>A (KCNQ1) | ENSP00000334497.5:p.Gly499Ser | |
| ENST00000526095.2:c.280G>A (KCNQ1) | ENSP00000494939.1:p.Gly94Ser | |
| ENST00000155840.9:c.1876G>A (KCNQ1) | ENSP00000155840.2:p.Gly626Ser | |
| ENST00000335475.5:c.1495G>A (KCNQ1) | ENSP00000334497.5:p.Gly499Ser | |
| ENST00000526095.1:n.383G>A (KCNQ1) | ||
| NM_000218.2:c.1876G>A , LRG_287t1:c.1876G>A (KCNQ1) | NP_000209.2:p.Gly626Ser | |
| NM_181798.1:c.1495G>A , LRG_287t2:c.1495G>A (KCNQ1) | NP_861463.1:p.Gly499Ser | |
| NR_130721.1:n.778-7406C>T (KCNQ1-AS1) | ||
| NM_000218.3:c.1876G>A (KCNQ1) MANE Select | NP_000209.2:p.Gly626Ser |