MyVariant.info:
GRCh38
chr11:g.2847865dupC
GRCh38
chr11:g.2847865_2847866insC
GRCh38
chr11:g.2847858_2847859insC
GRCh37
chr11:g.2869095dupC
GRCh37
chr11:g.2869095_2869096insC
GRCh37
chr11:g.2869089_2869090insC
GRCh37
chr11:g.2869088_2869089insC
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00009807 (SAS)
Genomes Max Group AF
0.00016906 (SAS)
Exomes Max Group AF
0.0000754 (SAS)
ClinVar RCV:
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.2847865dup , CM000673.2:g.2847865dup | GRCh38 |
| NC_000011.9:g.2869095dup , CM000673.1:g.2869095dup | GRCh37 |
| NC_000011.8:g.2825671dup | NCBI36 |
| NG_008935.1:g.407875dup , LRG_287:g.407875dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000496887.7:c.1536dup (KCNQ1) | ENSP00000434560.2:p.Arg513GlnfsTer20 | |
| ENST00000155840.12:c.1893dup (KCNQ1) MANE Select | ENSP00000155840.2:p.Arg632GlnfsTer20 | |
| ENST00000335475.6:c.1512dup (KCNQ1) | ENSP00000334497.5:p.Arg505GlnfsTer20 | |
| ENST00000526095.2:c.297dup (KCNQ1) | ENSP00000494939.1:p.Arg100GlnfsTer20 | |
| ENST00000155840.9:c.1893dup (KCNQ1) | ENSP00000155840.2:p.Arg632GlnfsTer20 | |
| ENST00000335475.5:c.1512dup (KCNQ1) | ENSP00000334497.5:p.Arg505GlnfsTer20 | |
| ENST00000526095.1:n.400dup (KCNQ1) | ||
| NM_000218.2:c.1893dup , LRG_287t1:c.1893dup (KCNQ1) | NP_000209.2:p.Arg632GlnfsTer20 | |
| NM_181798.1:c.1512dup , LRG_287t2:c.1512dup (KCNQ1) | NP_861463.1:p.Arg505GlnfsTer20 | |
| NR_130721.1:n.778-7417dup (KCNQ1-AS1) | ||
| NM_000218.3:c.1893dup (KCNQ1) MANE Select | NP_000209.2:p.Arg632GlnfsTer20 |