Linked Data
ClinVar Variation Id:
427960
ClinVar RCV Id:
RCV000498969
RCV000763731
RCV001002570
RCV001841402
RCV001591130
RCV001856926
RCV003362801
dbSNP Id:
rs775608046
ExAC:
11:2869087 G / A
gnomAD v2:
11-2869087-G-A
gnomAD v3:
11-2847857-G-A
gnomAD v4:
11-2847857-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.2847857G>A , CM000673.2:g.2847857G>A | GRCh38 |
| NC_000011.9:g.2869087G>A , CM000673.1:g.2869087G>A | GRCh37 |
| NC_000011.8:g.2825663G>A | NCBI36 |
| NG_008935.1:g.407867G>A , LRG_287:g.407867G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000496887.7:c.1528G>A (KCNQ1) | ENSP00000434560.2:p.Gly510Ser | |
| ENST00000155840.12:c.1885G>A (KCNQ1) MANE Select | ENSP00000155840.2:p.Gly629Ser | |
| ENST00000335475.6:c.1504G>A (KCNQ1) | ENSP00000334497.5:p.Gly502Ser | |
| ENST00000526095.2:c.289G>A (KCNQ1) | ENSP00000494939.1:p.Gly97Ser | |
| ENST00000155840.9:c.1885G>A (KCNQ1) | ENSP00000155840.2:p.Gly629Ser | |
| ENST00000335475.5:c.1504G>A (KCNQ1) | ENSP00000334497.5:p.Gly502Ser | |
| ENST00000526095.1:n.392G>A (KCNQ1) | ||
| NM_000218.2:c.1885G>A , LRG_287t1:c.1885G>A (KCNQ1) | NP_000209.2:p.Gly629Ser | |
| NM_181798.1:c.1504G>A , LRG_287t2:c.1504G>A (KCNQ1) | NP_861463.1:p.Gly502Ser | |
| NR_130721.1:n.778-7415C>T (KCNQ1-AS1) | ||
| NM_000218.3:c.1885G>A (KCNQ1) MANE Select | NP_000209.2:p.Gly629Ser |