Linked Data
ClinVar Variation Id:
1272027
ClinVar RCV Id:
RCV001684601
dbSNP Id:
rs760419
ExAC:
11:2683357 A / G
gnomAD v2:
11-2683357-A-G
gnomAD v3:
11-2662127-A-G
gnomAD v4:
11-2662127-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.2662127A>G , CM000673.2:g.2662127A>G | GRCh38 |
| NC_000011.9:g.2683357A>G , CM000673.1:g.2683357A>G | GRCh37 |
| NC_000011.8:g.2639933A>G | NCBI36 |
| NG_008935.1:g.222137A>G , LRG_287:g.222137A>G | |
| NG_016178.2:g.42872T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000496887.7:c.1157+46A>G (KCNQ1) | ENSP00000434560.2:n.1157+46A>G | |
| ENST00000646564.2:c.974+46A>G (KCNQ1) | ENSP00000495806.2:n.974+46A>G | |
| ENST00000155840.12:c.1514+46A>G (KCNQ1) MANE Select | ENSP00000155840.2:n.1514+46A>G | |
| ENST00000335475.6:c.1133+46A>G (KCNQ1) | ENSP00000334497.5:n.1133+46A>G | |
| ENST00000646564.1:c.620+46A>G (KCNQ1) | ENSP00000495806.1:n.620+46A>G | |
| ENST00000155840.9:c.1514+46A>G (KCNQ1) | ENSP00000155840.2:n.1514+46A>G | |
| ENST00000335475.5:c.1133+46A>G (KCNQ1) | ENSP00000334497.5:n.1133+46A>G | |
| NM_000218.2:c.1514+46A>G , LRG_287t1:c.1514+46A>G (KCNQ1) | NP_000209.2:n.1514+46A>G | |
| NM_181798.1:c.1133+46A>G , LRG_287t2:c.1133+46A>G (KCNQ1) | NP_861463.1:n.1133+46A>G | |
| NR_002728.3:n.37872T>C (KCNQ1OT1) | ||
| NM_000218.3:c.1514+46A>G (KCNQ1) MANE Select | NP_000209.2:n.1514+46A>G |