Linked Data
dbSNP Id:
rs1242163309
gnomAD v2:
11-2869953-G-A
gnomAD v3:
11-2848723-G-A
gnomAD v4:
11-2848723-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.2848723G>A , CM000673.2:g.2848723G>A | GRCh38 |
| NC_000011.9:g.2869953G>A , CM000673.1:g.2869953G>A | GRCh37 |
| NC_000011.8:g.2826529G>A | NCBI36 |
| NG_008935.1:g.408733G>A , LRG_287:g.408733G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000496887.7:c.*720G>A (KCNQ1) | ENSP00000434560.2:n.*720G>A | |
| ENST00000155840.12:c.*720G>A (KCNQ1) MANE Select | ENSP00000155840.2:n.*720G>A | |
| ENST00000335475.6:c.*720G>A (KCNQ1) | ENSP00000334497.5:n.*720G>A | |
| ENST00000155840.9:c.*720G>A (KCNQ1) | ENSP00000155840.2:n.*720G>A | |
| NM_000218.2:c.*720G>A , LRG_287t1:c.*720G>A (KCNQ1) | NP_000209.2:n.*720G>A | |
| NM_181798.1:c.*720G>A , LRG_287t2:c.*720G>A (KCNQ1) | NP_861463.1:n.*720G>A | |
| NR_130721.1:n.778-8281C>T (KCNQ1-AS1) | ||
| NM_000218.3:c.*720G>A (KCNQ1) MANE Select | NP_000209.2:n.*720G>A |