Linked Data
ClinVar Variation Id:
67062
ClinVar RCV Id:
RCV000057649
RCV000182236
RCV000767093
RCV001108386
RCV001108387
RCV001108388
RCV001108389
RCV001238350
RCV001841680
RCV002498333
dbSNP Id:
rs199473484
ExAC:
11:2869105 G / A
gnomAD v2:
11-2869105-G-A
gnomAD v3:
11-2847875-G-A
gnomAD v4:
11-2847875-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.2847875G>A , CM000673.2:g.2847875G>A | GRCh38 |
| NC_000011.9:g.2869105G>A , CM000673.1:g.2869105G>A | GRCh37 |
| NC_000011.8:g.2825681G>A | NCBI36 |
| NG_008935.1:g.407885G>A , LRG_287:g.407885G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000496887.7:c.1546G>A (KCNQ1) | ENSP00000434560.2:p.Gly516Arg | |
| ENST00000155840.12:c.1903G>A (KCNQ1) MANE Select | ENSP00000155840.2:p.Gly635Arg | |
| ENST00000335475.6:c.1522G>A (KCNQ1) | ENSP00000334497.5:p.Gly508Arg | |
| ENST00000526095.2:c.307G>A (KCNQ1) | ENSP00000494939.1:p.Gly103Arg | |
| ENST00000155840.9:c.1903G>A (KCNQ1) | ENSP00000155840.2:p.Gly635Arg | |
| ENST00000335475.5:c.1522G>A (KCNQ1) | ENSP00000334497.5:p.Gly508Arg | |
| ENST00000526095.1:n.410G>A (KCNQ1) | ||
| NM_000218.2:c.1903G>A , LRG_287t1:c.1903G>A (KCNQ1) | NP_000209.2:p.Gly635Arg | |
| NM_181798.1:c.1522G>A , LRG_287t2:c.1522G>A (KCNQ1) | NP_861463.1:p.Gly508Arg | |
| NR_130721.1:n.778-7433C>T (KCNQ1-AS1) | ||
| NM_000218.3:c.1903G>A (KCNQ1) MANE Select | NP_000209.2:p.Gly635Arg |