Linked Data
ClinVar Variation Id:
193801
dbSNP Id:
rs759714698
ExAC:
11:2683185 C / T
gnomAD v2:
11-2683185-C-T
gnomAD v3:
11-2661955-C-T
gnomAD v4:
11-2661955-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.2661955C>T , CM000673.2:g.2661955C>T | GRCh38 |
| NC_000011.9:g.2683185C>T , CM000673.1:g.2683185C>T | GRCh37 |
| NC_000011.8:g.2639761C>T | NCBI36 |
| NG_008935.1:g.221965C>T , LRG_287:g.221965C>T | |
| NG_016178.2:g.43044G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000496887.7:c.1037-6C>T (KCNQ1) | ENSP00000434560.2:n.1037-6C>T | |
| ENST00000646564.2:c.854-6C>T (KCNQ1) | ENSP00000495806.2:n.854-6C>T | |
| ENST00000155840.12:c.1394-6C>T (KCNQ1) MANE Select | ENSP00000155840.2:n.1394-6C>T | |
| ENST00000335475.6:c.1013-6C>T (KCNQ1) | ENSP00000334497.5:n.1013-6C>T | |
| ENST00000646564.1:c.500-6C>T (KCNQ1) | ENSP00000495806.1:n.500-6C>T | |
| ENST00000155840.9:c.1394-6C>T (KCNQ1) | ENSP00000155840.2:n.1394-6C>T | |
| ENST00000335475.5:c.1013-6C>T (KCNQ1) | ENSP00000334497.5:n.1013-6C>T | |
| NM_000218.2:c.1394-6C>T , LRG_287t1:c.1394-6C>T (KCNQ1) | NP_000209.2:n.1394-6C>T | |
| NM_181798.1:c.1013-6C>T , LRG_287t2:c.1013-6C>T (KCNQ1) | NP_861463.1:n.1013-6C>T | |
| NR_002728.3:n.38044G>A (KCNQ1OT1) | ||
| NM_000218.3:c.1394-6C>T (KCNQ1) MANE Select | NP_000209.2:n.1394-6C>T |