Linked Data
ClinVar Variation Id:
53025
ClinVar RCV Id:
RCV000003285
RCV000182287
RCV002490606
RCV001386478
RCV002408547
RCV003591641
RCV004537220
dbSNP Id:
rs397508103
PubMed:
PMID:10024302
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.2847864_2847883del , CM000673.2:g.2847864_2847883del | GRCh38 |
| NC_000011.9:g.2869094_2869113del , CM000673.1:g.2869094_2869113del | GRCh37 |
| NC_000011.8:g.2825670_2825689del | NCBI36 |
| NG_008935.1:g.407874_407893del , LRG_287:g.407874_407893del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000496887.7:c.1535_1554del (KCNQ1) | ENSP00000434560.2:p.Pro512HisfsTer14 | |
| ENST00000155840.12:c.1892_1911del (KCNQ1) MANE Select | ENSP00000155840.2:p.Pro631HisfsTer14 | |
| ENST00000335475.6:c.1511_1530del (KCNQ1) | ENSP00000334497.5:p.Pro504HisfsTer14 | |
| ENST00000526095.2:c.296_315del (KCNQ1) | ENSP00000494939.1:p.Pro99HisfsTer14 | |
| ENST00000155840.9:c.1892_1911del (KCNQ1) | ENSP00000155840.2:p.Pro631HisfsTer14 | |
| ENST00000335475.5:c.1511_1530del (KCNQ1) | ENSP00000334497.5:p.Pro504HisfsTer14 | |
| ENST00000526095.1:n.399_418del (KCNQ1) | ||
| NM_000218.2:c.1892_1911del , LRG_287t1:c.1892_1911del (KCNQ1) | NP_000209.2:p.Pro631HisfsTer14 | |
| NM_181798.1:c.1511_1530del , LRG_287t2:c.1511_1530del (KCNQ1) | NP_861463.1:p.Pro504HisfsTer14 | |
| NR_130721.1:n.778-7440_778-7421del (KCNQ1-AS1) | ||
| NM_000218.3:c.1892_1911del (KCNQ1) MANE Select | NP_000209.2:p.Pro631HisfsTer14 |