Linked Data
ClinVar Variation Id:
237226
ClinVar RCV Id:
RCV000231907
RCV000309382
RCV000253803
RCV000313609
RCV000341550
RCV000396200
RCV001093997
RCV001842987
RCV002282069
RCV004532836
dbSNP Id:
rs112113213
ExAC:
11:2869077 C / T
gnomAD v2:
11-2869077-C-T
gnomAD v3:
11-2847847-C-T
gnomAD v4:
11-2847847-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.2847847C>T , CM000673.2:g.2847847C>T | GRCh38 |
| NC_000011.9:g.2869077C>T , CM000673.1:g.2869077C>T | GRCh37 |
| NC_000011.8:g.2825653C>T | NCBI36 |
| NG_008935.1:g.407857C>T , LRG_287:g.407857C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000496887.7:c.1518C>T (KCNQ1) | ENSP00000434560.2:p.Pro506= | |
| ENST00000155840.12:c.1875C>T (KCNQ1) MANE Select | ENSP00000155840.2:p.Pro625= | |
| ENST00000335475.6:c.1494C>T (KCNQ1) | ENSP00000334497.5:p.Pro498= | |
| ENST00000526095.2:c.279C>T (KCNQ1) | ENSP00000494939.1:p.Pro93= | |
| ENST00000155840.9:c.1875C>T (KCNQ1) | ENSP00000155840.2:p.Pro625= | |
| ENST00000335475.5:c.1494C>T (KCNQ1) | ENSP00000334497.5:p.Pro498= | |
| ENST00000526095.1:n.382C>T (KCNQ1) | ||
| NM_000218.2:c.1875C>T , LRG_287t1:c.1875C>T (KCNQ1) | NP_000209.2:p.Pro625= | |
| NM_181798.1:c.1494C>T , LRG_287t2:c.1494C>T (KCNQ1) | NP_861463.1:p.Pro498= | |
| NR_130721.1:n.778-7405G>A (KCNQ1-AS1) | ||
| NM_000218.3:c.1875C>T (KCNQ1) MANE Select | NP_000209.2:p.Pro625= |