Linked Data
ClinVar Variation Id:
53026
dbSNP Id:
rs397508104
gnomAD v2:
11-2869088-GC-G
gnomAD v3:
11-2847858-GC-G
gnomAD v4:
11-2847858-GC-G
MyVariant Identifiers:
chr11:g.2869095del (hg19)
chr11:g.2869089del (hg19)
chr11:g.2847865del (hg38)
chr11:g.2847859del (hg38)
PubMed:
PMID:16414944
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.2847865del , CM000673.2:g.2847865del | GRCh38 |
| NC_000011.9:g.2869095del , CM000673.1:g.2869095del | GRCh37 |
| NC_000011.8:g.2825671del | NCBI36 |
| NG_008935.1:g.407875del , LRG_287:g.407875del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000496887.7:c.1536del (KCNQ1) | ENSP00000434560.2:p.Arg513GlufsTer? | |
| ENST00000155840.12:c.1893del (KCNQ1) MANE Select | ENSP00000155840.2:p.Arg632GlufsTer? | |
| ENST00000335475.6:c.1512del (KCNQ1) | ENSP00000334497.5:p.Arg505GlufsTer? | |
| ENST00000526095.2:c.297del (KCNQ1) | ENSP00000494939.1:p.Arg100GlufsTer? | |
| ENST00000155840.9:c.1893del (KCNQ1) | ENSP00000155840.2:p.Arg632GlufsTer? | |
| ENST00000335475.5:c.1512del (KCNQ1) | ENSP00000334497.5:p.Arg505GlufsTer? | |
| ENST00000526095.1:n.400del (KCNQ1) | ||
| NM_000218.2:c.1893del , LRG_287t1:c.1893del (KCNQ1) | NP_000209.2:p.Arg632GlufsTer? | |
| NM_181798.1:c.1512del , LRG_287t2:c.1512del (KCNQ1) | NP_861463.1:p.Arg505GlufsTer? | |
| NR_130721.1:n.778-7417del (KCNQ1-AS1) | ||
| NM_000218.3:c.1893del (KCNQ1) MANE Select | NP_000209.2:p.Arg632GlufsTer? |