Linked Data
ClinVar Variation Id:
138004
ClinVar RCV Id:
RCV000155134
RCV000387984
RCV000348591
RCV000317191
RCV000295959
RCV000387233
RCV000588614
RCV001094054
RCV001842426
dbSNP Id:
rs371488379
ExAC:
11:2683183 C / T
gnomAD v2:
11-2683183-C-T
gnomAD v3:
11-2661953-C-T
gnomAD v4:
11-2661953-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.2661953C>T , CM000673.2:g.2661953C>T | GRCh38 |
| NC_000011.9:g.2683183C>T , CM000673.1:g.2683183C>T | GRCh37 |
| NC_000011.8:g.2639759C>T | NCBI36 |
| NG_008935.1:g.221963C>T , LRG_287:g.221963C>T | |
| NG_016178.2:g.43046G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000496887.7:c.1037-8C>T (KCNQ1) | ENSP00000434560.2:n.1037-8C>T | |
| ENST00000646564.2:c.854-8C>T (KCNQ1) | ENSP00000495806.2:n.854-8C>T | |
| ENST00000155840.12:c.1394-8C>T (KCNQ1) MANE Select | ENSP00000155840.2:n.1394-8C>T | |
| ENST00000335475.6:c.1013-8C>T (KCNQ1) | ENSP00000334497.5:n.1013-8C>T | |
| ENST00000646564.1:c.500-8C>T (KCNQ1) | ENSP00000495806.1:n.500-8C>T | |
| ENST00000155840.9:c.1394-8C>T (KCNQ1) | ENSP00000155840.2:n.1394-8C>T | |
| ENST00000335475.5:c.1013-8C>T (KCNQ1) | ENSP00000334497.5:n.1013-8C>T | |
| NM_000218.2:c.1394-8C>T , LRG_287t1:c.1394-8C>T (KCNQ1) | NP_000209.2:n.1394-8C>T | |
| NM_181798.1:c.1013-8C>T , LRG_287t2:c.1013-8C>T (KCNQ1) | NP_861463.1:n.1013-8C>T | |
| NR_002728.3:n.38046G>A (KCNQ1OT1) | ||
| NM_000218.3:c.1394-8C>T (KCNQ1) MANE Select | NP_000209.2:n.1394-8C>T |