Linked Data
ClinVar Variation Id:
53021
dbSNP Id:
rs199472819
gnomAD v2:
11-2869057-T-A
gnomAD v4:
11-2847827-T-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.2847827T>A , CM000673.2:g.2847827T>A | GRCh38 |
| NC_000011.9:g.2869057T>A , CM000673.1:g.2869057T>A | GRCh37 |
| NC_000011.8:g.2825633T>A | NCBI36 |
| NG_008935.1:g.407837T>A , LRG_287:g.407837T>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000496887.7:c.1498T>A (KCNQ1) | ENSP00000434560.2:p.Leu500Met | |
| ENST00000155840.12:c.1855T>A (KCNQ1) MANE Select | ENSP00000155840.2:p.Leu619Met | |
| ENST00000335475.6:c.1474T>A (KCNQ1) | ENSP00000334497.5:p.Leu492Met | |
| ENST00000526095.2:c.259T>A (KCNQ1) | ENSP00000494939.1:p.Leu87Met | |
| ENST00000155840.9:c.1855T>A (KCNQ1) | ENSP00000155840.2:p.Leu619Met | |
| ENST00000335475.5:c.1474T>A (KCNQ1) | ENSP00000334497.5:p.Leu492Met | |
| ENST00000526095.1:n.362T>A (KCNQ1) | ||
| NM_000218.2:c.1855T>A , LRG_287t1:c.1855T>A (KCNQ1) | NP_000209.2:p.Leu619Met | |
| NM_181798.1:c.1474T>A , LRG_287t2:c.1474T>A (KCNQ1) | NP_861463.1:p.Leu492Met | |
| NR_130721.1:n.778-7385A>T (KCNQ1-AS1) | ||
| NM_000218.3:c.1855T>A (KCNQ1) MANE Select | NP_000209.2:p.Leu619Met |