Linked Data
ClinVar Variation Id:
67061
dbSNP Id:
rs199472820
ExAC:
11:2869063 G / A
gnomAD v2:
11-2869063-G-A
gnomAD v3:
11-2847833-G-A
gnomAD v4:
11-2847833-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.2847833G>A , CM000673.2:g.2847833G>A | GRCh38 |
| NC_000011.9:g.2869063G>A , CM000673.1:g.2869063G>A | GRCh37 |
| NC_000011.8:g.2825639G>A | NCBI36 |
| NG_008935.1:g.407843G>A , LRG_287:g.407843G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000496887.7:c.1504G>A (KCNQ1) | ENSP00000434560.2:p.Gly502Ser | |
| ENST00000155840.12:c.1861G>A (KCNQ1) MANE Select | ENSP00000155840.2:p.Gly621Ser | |
| ENST00000335475.6:c.1480G>A (KCNQ1) | ENSP00000334497.5:p.Gly494Ser | |
| ENST00000526095.2:c.265G>A (KCNQ1) | ENSP00000494939.1:p.Gly89Ser | |
| ENST00000155840.9:c.1861G>A (KCNQ1) | ENSP00000155840.2:p.Gly621Ser | |
| ENST00000335475.5:c.1480G>A (KCNQ1) | ENSP00000334497.5:p.Gly494Ser | |
| ENST00000526095.1:n.368G>A (KCNQ1) | ||
| NM_000218.2:c.1861G>A , LRG_287t1:c.1861G>A (KCNQ1) | NP_000209.2:p.Gly621Ser | |
| NM_181798.1:c.1480G>A , LRG_287t2:c.1480G>A (KCNQ1) | NP_861463.1:p.Gly494Ser | |
| NR_130721.1:n.778-7391C>T (KCNQ1-AS1) | ||
| NM_000218.3:c.1861G>A (KCNQ1) MANE Select | NP_000209.2:p.Gly621Ser |