Linked Data
ClinVar Variation Id:
42489
ClinVar RCV Id:
RCV000035345
RCV000245782
RCV000275123
RCV000276443
RCV000330439
RCV000356002
RCV000389609
RCV000757421
RCV001093984
RCV001841559
dbSNP Id:
rs11601907
ExAC:
11:2869188 C / T
gnomAD v2:
11-2869188-C-T
gnomAD v3:
11-2847958-C-T
gnomAD v4:
11-2847958-C-T
PubMed:
PMID:19716085
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.2847958C>T , CM000673.2:g.2847958C>T | GRCh38 |
| NC_000011.9:g.2869188C>T , CM000673.1:g.2869188C>T | GRCh37 |
| NC_000011.8:g.2825764C>T | NCBI36 |
| NG_008935.1:g.407968C>T , LRG_287:g.407968C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000496887.7:c.1629C>T (KCNQ1) | ENSP00000434560.2:p.Tyr543= | |
| ENST00000155840.12:c.1986C>T (KCNQ1) MANE Select | ENSP00000155840.2:p.Tyr662= | |
| ENST00000335475.6:c.1605C>T (KCNQ1) | ENSP00000334497.5:p.Tyr535= | |
| ENST00000526095.2:c.390C>T (KCNQ1) | ENSP00000494939.1:p.Tyr130= | |
| ENST00000155840.9:c.1986C>T (KCNQ1) | ENSP00000155840.2:p.Tyr662= | |
| ENST00000335475.5:c.1605C>T (KCNQ1) | ENSP00000334497.5:p.Tyr535= | |
| ENST00000526095.1:n.493C>T (KCNQ1) | ||
| NM_000218.2:c.1986C>T , LRG_287t1:c.1986C>T (KCNQ1) | NP_000209.2:p.Tyr662= | |
| NM_181798.1:c.1605C>T , LRG_287t2:c.1605C>T (KCNQ1) | NP_861463.1:p.Tyr535= | |
| NR_130721.1:n.778-7516G>A (KCNQ1-AS1) | ||
| NM_000218.3:c.1986C>T (KCNQ1) MANE Select | NP_000209.2:p.Tyr662= |