Linked Data
ClinVar Variation Id:
1171960
dbSNP Id:
rs2134097230
gnomAD v4:
11-2847883-C-T
MyVariant Identifiers:
chr11:g.2869113C>T (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.2847883C>T , CM000673.2:g.2847883C>T | GRCh38 |
| NC_000011.9:g.2869113C>T , CM000673.1:g.2869113C>T | GRCh37 |
| NC_000011.8:g.2825689C>T | NCBI36 |
| NG_008935.1:g.407893C>T , LRG_287:g.407893C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000496887.7:c.1554C>T (KCNQ1) | ENSP00000434560.2:p.His518= | |
| ENST00000155840.12:c.1911C>T (KCNQ1) MANE Select | ENSP00000155840.2:p.His637= | |
| ENST00000335475.6:c.1530C>T (KCNQ1) | ENSP00000334497.5:p.His510= | |
| ENST00000526095.2:c.315C>T (KCNQ1) | ENSP00000494939.1:p.His105= | |
| ENST00000155840.9:c.1911C>T (KCNQ1) | ENSP00000155840.2:p.His637= | |
| ENST00000335475.5:c.1530C>T (KCNQ1) | ENSP00000334497.5:p.His510= | |
| ENST00000526095.1:n.418C>T (KCNQ1) | ||
| NM_000218.2:c.1911C>T , LRG_287t1:c.1911C>T (KCNQ1) | NP_000209.2:p.His637= | |
| NM_181798.1:c.1530C>T , LRG_287t2:c.1530C>T (KCNQ1) | NP_861463.1:p.His510= | |
| NR_130721.1:n.778-7441G>A (KCNQ1-AS1) | ||
| NM_000218.3:c.1911C>T (KCNQ1) MANE Select | NP_000209.2:p.His637= |