Linked Data
ClinVar Variation Id:
304226
ClinVar RCV Id:
RCV000262598
RCV000302307
RCV000301238
RCV000359640
RCV000394376
RCV002265729
RCV002392838
RCV001841255
dbSNP Id:
rs374767819
ExAC:
11:2683314 G / A
gnomAD v2:
11-2683314-G-A
gnomAD v3:
11-2662084-G-A
gnomAD v4:
11-2662084-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.2662084G>A , CM000673.2:g.2662084G>A | GRCh38 |
| NC_000011.9:g.2683314G>A , CM000673.1:g.2683314G>A | GRCh37 |
| NC_000011.8:g.2639890G>A | NCBI36 |
| NG_008935.1:g.222094G>A , LRG_287:g.222094G>A | |
| NG_016178.2:g.42915C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000496887.7:c.1157+3G>A (KCNQ1) | ENSP00000434560.2:n.1157+3G>A | |
| ENST00000646564.2:c.974+3G>A (KCNQ1) | ENSP00000495806.2:n.974+3G>A | |
| ENST00000155840.12:c.1514+3G>A (KCNQ1) MANE Select | ENSP00000155840.2:n.1514+3G>A | |
| ENST00000335475.6:c.1133+3G>A (KCNQ1) | ENSP00000334497.5:n.1133+3G>A | |
| ENST00000646564.1:c.620+3G>A (KCNQ1) | ENSP00000495806.1:n.620+3G>A | |
| ENST00000155840.9:c.1514+3G>A (KCNQ1) | ENSP00000155840.2:n.1514+3G>A | |
| ENST00000335475.5:c.1133+3G>A (KCNQ1) | ENSP00000334497.5:n.1133+3G>A | |
| NM_000218.2:c.1514+3G>A , LRG_287t1:c.1514+3G>A (KCNQ1) | NP_000209.2:n.1514+3G>A | |
| NM_181798.1:c.1133+3G>A , LRG_287t2:c.1133+3G>A (KCNQ1) | NP_861463.1:n.1133+3G>A | |
| NR_002728.3:n.37915C>T (KCNQ1OT1) | ||
| NM_000218.3:c.1514+3G>A (KCNQ1) MANE Select | NP_000209.2:n.1514+3G>A |