Linked Data
ClinVar Variation Id:
67059
ClinVar RCV Id:
RCV000057643
RCV000148559
RCV000182235
RCV000755676
RCV000825351
RCV001841678
RCV004018995
dbSNP Id:
rs147445322
ExAC:
11:2869033 G / A
gnomAD v2:
11-2869033-G-A
gnomAD v3:
11-2847803-G-A
gnomAD v4:
11-2847803-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.2847803G>A , CM000673.2:g.2847803G>A | GRCh38 |
| NC_000011.9:g.2869033G>A , CM000673.1:g.2869033G>A | GRCh37 |
| NC_000011.8:g.2825609G>A | NCBI36 |
| NG_008935.1:g.407813G>A , LRG_287:g.407813G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000496887.7:c.1474G>A (KCNQ1) | ENSP00000434560.2:p.Asp492Asn | |
| ENST00000155840.12:c.1831G>A (KCNQ1) MANE Select | ENSP00000155840.2:p.Asp611Asn | |
| ENST00000335475.6:c.1450G>A (KCNQ1) | ENSP00000334497.5:p.Asp484Asn | |
| ENST00000526095.2:c.235G>A (KCNQ1) | ENSP00000494939.1:p.Asp79Asn | |
| ENST00000155840.9:c.1831G>A (KCNQ1) | ENSP00000155840.2:p.Asp611Asn | |
| ENST00000335475.5:c.1450G>A (KCNQ1) | ENSP00000334497.5:p.Asp484Asn | |
| ENST00000526095.1:n.338G>A (KCNQ1) | ||
| NM_000218.2:c.1831G>A , LRG_287t1:c.1831G>A (KCNQ1) | NP_000209.2:p.Asp611Asn | |
| NM_181798.1:c.1450G>A , LRG_287t2:c.1450G>A (KCNQ1) | NP_861463.1:p.Asp484Asn | |
| NR_130721.1:n.778-7361C>T (KCNQ1-AS1) | ||
| NM_000218.3:c.1831G>A (KCNQ1) MANE Select | NP_000209.2:p.Asp611Asn |