Linked Data
ClinVar Variation Id:
304269
dbSNP Id:
rs74048340
ExAC:
11:2870208 C / T
gnomAD v2:
11-2870208-C-T
gnomAD v3:
11-2848978-C-T
gnomAD v4:
11-2848978-C-T
MyVariant Identifiers:
chr11:g.2870208C>T (hg19)
chr11:g.2870208_2870210delinsTGT (hg19)
chr11:g.2848978C>T (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.2848978C>T , CM000673.2:g.2848978C>T | GRCh38 |
| NC_000011.9:g.2870208C>T , CM000673.1:g.2870208C>T | GRCh37 |
| NC_000011.8:g.2826784C>T | NCBI36 |
| NG_008935.1:g.408988C>T , LRG_287:g.408988C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000496887.7:c.*975C>T (KCNQ1) | ENSP00000434560.2:n.*975C>T | |
| ENST00000155840.12:c.*975C>T (KCNQ1) MANE Select | ENSP00000155840.2:n.*975C>T | |
| ENST00000335475.6:c.*975C>T (KCNQ1) | ENSP00000334497.5:n.*975C>T | |
| ENST00000155840.9:c.*975C>T (KCNQ1) | ENSP00000155840.2:n.*975C>T | |
| NM_000218.2:c.*975C>T , LRG_287t1:c.*975C>T (KCNQ1) | NP_000209.2:n.*975C>T | |
| NM_181798.1:c.*975C>T , LRG_287t2:c.*975C>T (KCNQ1) | NP_861463.1:n.*975C>T | |
| NR_130721.1:n.778-8536G>A (KCNQ1-AS1) | ||
| NM_000218.3:c.*975C>T (KCNQ1) MANE Select | NP_000209.2:n.*975C>T |