Linked Data
ClinVar Variation Id:
919839
ClinVar RCV Id:
RCV001842724
dbSNP Id:
rs1349244002
gnomAD v4:
11-2848009-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.2848009G>A , CM000673.2:g.2848009G>A | GRCh38 |
| NC_000011.9:g.2869239G>A , CM000673.1:g.2869239G>A | GRCh37 |
| NC_000011.8:g.2825815G>A | NCBI36 |
| NG_008935.1:g.408019G>A , LRG_287:g.408019G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000496887.7:c.*6G>A (KCNQ1) | ENSP00000434560.2:n.*6G>A | |
| ENST00000155840.12:c.*6G>A (KCNQ1) MANE Select | ENSP00000155840.2:n.*6G>A | |
| ENST00000335475.6:c.*6G>A (KCNQ1) | ENSP00000334497.5:n.*6G>A | |
| ENST00000526095.2:c.*6G>A (KCNQ1) | ENSP00000494939.1:n.*6G>A | |
| ENST00000155840.9:c.*6G>A (KCNQ1) | ENSP00000155840.2:n.*6G>A | |
| ENST00000335475.5:c.*6G>A (KCNQ1) | ENSP00000334497.5:n.*6G>A | |
| ENST00000526095.1:n.544G>A (KCNQ1) | ||
| NM_000218.2:c.*6G>A , LRG_287t1:c.*6G>A (KCNQ1) | NP_000209.2:n.*6G>A | |
| NM_181798.1:c.*6G>A , LRG_287t2:c.*6G>A (KCNQ1) | NP_861463.1:n.*6G>A | |
| NR_130721.1:n.778-7567C>T (KCNQ1-AS1) | ||
| NM_000218.3:c.*6G>A (KCNQ1) MANE Select | NP_000209.2:n.*6G>A |