Linked Data
dbSNP Id:
rs1208698179
gnomAD v2:
11-2869527-A-C
gnomAD v3:
11-2848297-A-C
gnomAD v4:
11-2848297-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.2848297A>C , CM000673.2:g.2848297A>C | GRCh38 |
| NC_000011.9:g.2869527A>C , CM000673.1:g.2869527A>C | GRCh37 |
| NC_000011.8:g.2826103A>C | NCBI36 |
| NG_008935.1:g.408307A>C , LRG_287:g.408307A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000496887.7:c.*294A>C (KCNQ1) | ENSP00000434560.2:n.*294A>C | |
| ENST00000155840.12:c.*294A>C (KCNQ1) MANE Select | ENSP00000155840.2:n.*294A>C | |
| ENST00000335475.6:c.*294A>C (KCNQ1) | ENSP00000334497.5:n.*294A>C | |
| ENST00000155840.9:c.*294A>C (KCNQ1) | ENSP00000155840.2:n.*294A>C | |
| ENST00000526095.1:n.832A>C (KCNQ1) | ||
| NM_000218.2:c.*294A>C , LRG_287t1:c.*294A>C (KCNQ1) | NP_000209.2:n.*294A>C | |
| NM_181798.1:c.*294A>C , LRG_287t2:c.*294A>C (KCNQ1) | NP_861463.1:n.*294A>C | |
| NR_130721.1:n.778-7855T>G (KCNQ1-AS1) | ||
| NM_000218.3:c.*294A>C (KCNQ1) MANE Select | NP_000209.2:n.*294A>C |