Linked Data
ClinVar Variation Id:
67060
dbSNP Id:
rs147445322
gnomAD v2:
11-2869033-G-T
gnomAD v4:
11-2847803-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.2847803G>T , CM000673.2:g.2847803G>T | GRCh38 |
| NC_000011.9:g.2869033G>T , CM000673.1:g.2869033G>T | GRCh37 |
| NC_000011.8:g.2825609G>T | NCBI36 |
| NG_008935.1:g.407813G>T , LRG_287:g.407813G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000496887.7:c.1474G>T (KCNQ1) | ENSP00000434560.2:p.Asp492Tyr | |
| ENST00000155840.12:c.1831G>T (KCNQ1) MANE Select | ENSP00000155840.2:p.Asp611Tyr | |
| ENST00000335475.6:c.1450G>T (KCNQ1) | ENSP00000334497.5:p.Asp484Tyr | |
| ENST00000526095.2:c.235G>T (KCNQ1) | ENSP00000494939.1:p.Asp79Tyr | |
| ENST00000155840.9:c.1831G>T (KCNQ1) | ENSP00000155840.2:p.Asp611Tyr | |
| ENST00000335475.5:c.1450G>T (KCNQ1) | ENSP00000334497.5:p.Asp484Tyr | |
| ENST00000526095.1:n.338G>T (KCNQ1) | ||
| NM_000218.2:c.1831G>T , LRG_287t1:c.1831G>T (KCNQ1) | NP_000209.2:p.Asp611Tyr | |
| NM_181798.1:c.1450G>T , LRG_287t2:c.1450G>T (KCNQ1) | NP_861463.1:p.Asp484Tyr | |
| NR_130721.1:n.778-7361C>A (KCNQ1-AS1) | ||
| NM_000218.3:c.1831G>T (KCNQ1) MANE Select | NP_000209.2:p.Asp611Tyr |