Linked Data
ClinVar Variation Id:
138008
ClinVar RCV Id:
RCV000126442
RCV000631840
RCV001105132
RCV001105133
RCV001842429
RCV001103215
RCV001103216
RCV004019719
dbSNP Id:
rs201698592
ExAC:
11:2869146 C / T
gnomAD v2:
11-2869146-C-T
gnomAD v3:
11-2847916-C-T
gnomAD v4:
11-2847916-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.2847916C>T , CM000673.2:g.2847916C>T | GRCh38 |
| NC_000011.9:g.2869146C>T , CM000673.1:g.2869146C>T | GRCh37 |
| NC_000011.8:g.2825722C>T | NCBI36 |
| NG_008935.1:g.407926C>T , LRG_287:g.407926C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000496887.7:c.1587C>T (KCNQ1) | ENSP00000434560.2:p.Val529= | |
| ENST00000155840.12:c.1944C>T (KCNQ1) MANE Select | ENSP00000155840.2:p.Val648= | |
| ENST00000335475.6:c.1563C>T (KCNQ1) | ENSP00000334497.5:p.Val521= | |
| ENST00000526095.2:c.348C>T (KCNQ1) | ENSP00000494939.1:p.Val116= | |
| ENST00000155840.9:c.1944C>T (KCNQ1) | ENSP00000155840.2:p.Val648= | |
| ENST00000335475.5:c.1563C>T (KCNQ1) | ENSP00000334497.5:p.Val521= | |
| ENST00000526095.1:n.451C>T (KCNQ1) | ||
| NM_000218.2:c.1944C>T , LRG_287t1:c.1944C>T (KCNQ1) | NP_000209.2:p.Val648= | |
| NM_181798.1:c.1563C>T , LRG_287t2:c.1563C>T (KCNQ1) | NP_861463.1:p.Val521= | |
| NR_130721.1:n.778-7474G>A (KCNQ1-AS1) | ||
| NM_000218.3:c.1944C>T (KCNQ1) MANE Select | NP_000209.2:p.Val648= |