Linked Data
ClinVar Variation Id:
163744
ClinVar RCV Id:
RCV000150874
RCV000205176
RCV000251316
RCV001103103
RCV001105014
RCV001105015
RCV001675635
RCV001103104
RCV001842464
dbSNP Id:
rs147091980
ExAC:
11:2869002 G / A
gnomAD v2:
11-2869002-G-A
gnomAD v3:
11-2847772-G-A
gnomAD v4:
11-2847772-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.2847772G>A , CM000673.2:g.2847772G>A | GRCh38 |
| NC_000011.9:g.2869002G>A , CM000673.1:g.2869002G>A | GRCh37 |
| NC_000011.8:g.2825578G>A | NCBI36 |
| NG_008935.1:g.407782G>A , LRG_287:g.407782G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000496887.7:c.1443G>A (KCNQ1) | ENSP00000434560.2:p.Thr481= | |
| ENST00000155840.12:c.1800G>A (KCNQ1) MANE Select | ENSP00000155840.2:p.Thr600= | |
| ENST00000335475.6:c.1419G>A (KCNQ1) | ENSP00000334497.5:p.Thr473= | |
| ENST00000526095.2:c.204G>A (KCNQ1) | ENSP00000494939.1:p.Thr68= | |
| ENST00000155840.9:c.1800G>A (KCNQ1) | ENSP00000155840.2:p.Thr600= | |
| ENST00000335475.5:c.1419G>A (KCNQ1) | ENSP00000334497.5:p.Thr473= | |
| ENST00000526095.1:n.307G>A (KCNQ1) | ||
| NM_000218.2:c.1800G>A , LRG_287t1:c.1800G>A (KCNQ1) | NP_000209.2:p.Thr600= | |
| NM_181798.1:c.1419G>A , LRG_287t2:c.1419G>A (KCNQ1) | NP_861463.1:p.Thr473= | |
| NR_130721.1:n.778-7330C>T (KCNQ1-AS1) | ||
| NM_000218.3:c.1800G>A (KCNQ1) MANE Select | NP_000209.2:p.Thr600= |