Linked Data
ClinVar Variation Id:
3051785
ClinVar RCV Id:
RCV004545577
dbSNP Id:
rs554041638
gnomAD v2:
11-2683523-T-C
gnomAD v3:
11-2662293-T-C
gnomAD v4:
11-2662293-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.2662293T>C , CM000673.2:g.2662293T>C | GRCh38 |
| NC_000011.9:g.2683523T>C , CM000673.1:g.2683523T>C | GRCh37 |
| NC_000011.8:g.2640099T>C | NCBI36 |
| NG_008935.1:g.222303T>C , LRG_287:g.222303T>C | |
| NG_016178.2:g.42706A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000496887.7:c.1157+212T>C (KCNQ1) | ENSP00000434560.2:n.1157+212T>C | |
| ENST00000646564.2:c.974+212T>C (KCNQ1) | ENSP00000495806.2:n.974+212T>C | |
| ENST00000155840.12:c.1514+212T>C (KCNQ1) MANE Select | ENSP00000155840.2:n.1514+212T>C | |
| ENST00000335475.6:c.1133+212T>C (KCNQ1) | ENSP00000334497.5:n.1133+212T>C | |
| ENST00000646564.1:c.620+212T>C (KCNQ1) | ENSP00000495806.1:n.620+212T>C | |
| ENST00000155840.9:c.1514+212T>C (KCNQ1) | ENSP00000155840.2:n.1514+212T>C | |
| ENST00000335475.5:c.1133+212T>C (KCNQ1) | ENSP00000334497.5:n.1133+212T>C | |
| NM_000218.2:c.1514+212T>C , LRG_287t1:c.1514+212T>C (KCNQ1) | NP_000209.2:n.1514+212T>C | |
| NM_181798.1:c.1133+212T>C , LRG_287t2:c.1133+212T>C (KCNQ1) | NP_861463.1:n.1133+212T>C | |
| NR_002728.3:n.37706A>G (KCNQ1OT1) | ||
| NM_000218.3:c.1514+212T>C (KCNQ1) MANE Select | NP_000209.2:n.1514+212T>C |