Linked Data
dbSNP Id:
rs1472614251
gnomAD v2:
11-2869553-T-C
gnomAD v3:
11-2848323-T-C
gnomAD v4:
11-2848323-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.2848323T>C , CM000673.2:g.2848323T>C | GRCh38 |
| NC_000011.9:g.2869553T>C , CM000673.1:g.2869553T>C | GRCh37 |
| NC_000011.8:g.2826129T>C | NCBI36 |
| NG_008935.1:g.408333T>C , LRG_287:g.408333T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000496887.7:c.*320T>C (KCNQ1) | ENSP00000434560.2:n.*320T>C | |
| ENST00000155840.12:c.*320T>C (KCNQ1) MANE Select | ENSP00000155840.2:n.*320T>C | |
| ENST00000335475.6:c.*320T>C (KCNQ1) | ENSP00000334497.5:n.*320T>C | |
| ENST00000155840.9:c.*320T>C (KCNQ1) | ENSP00000155840.2:n.*320T>C | |
| ENST00000526095.1:n.858T>C (KCNQ1) | ||
| NM_000218.2:c.*320T>C , LRG_287t1:c.*320T>C (KCNQ1) | NP_000209.2:n.*320T>C | |
| NM_181798.1:c.*320T>C , LRG_287t2:c.*320T>C (KCNQ1) | NP_861463.1:n.*320T>C | |
| NR_130721.1:n.778-7881A>G (KCNQ1-AS1) | ||
| NM_000218.3:c.*320T>C (KCNQ1) MANE Select | NP_000209.2:n.*320T>C |