Linked Data
dbSNP Id:
rs752515823
ExAC:
11:2869526 C / T
gnomAD v2:
11-2869526-C-T
gnomAD v3:
11-2848296-C-T
gnomAD v4:
11-2848296-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.2848296C>T , CM000673.2:g.2848296C>T | GRCh38 |
| NC_000011.9:g.2869526C>T , CM000673.1:g.2869526C>T | GRCh37 |
| NC_000011.8:g.2826102C>T | NCBI36 |
| NG_008935.1:g.408306C>T , LRG_287:g.408306C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000496887.7:c.*293C>T (KCNQ1) | ENSP00000434560.2:n.*293C>T | |
| ENST00000155840.12:c.*293C>T (KCNQ1) MANE Select | ENSP00000155840.2:n.*293C>T | |
| ENST00000335475.6:c.*293C>T (KCNQ1) | ENSP00000334497.5:n.*293C>T | |
| ENST00000155840.9:c.*293C>T (KCNQ1) | ENSP00000155840.2:n.*293C>T | |
| ENST00000526095.1:n.831C>T (KCNQ1) | ||
| NM_000218.2:c.*293C>T , LRG_287t1:c.*293C>T (KCNQ1) | NP_000209.2:n.*293C>T | |
| NM_181798.1:c.*293C>T , LRG_287t2:c.*293C>T (KCNQ1) | NP_861463.1:n.*293C>T | |
| NR_130721.1:n.778-7854G>A (KCNQ1-AS1) | ||
| NM_000218.3:c.*293C>T (KCNQ1) MANE Select | NP_000209.2:n.*293C>T |