Linked Data
ClinVar Variation Id:
36437
ClinVar RCV Id:
RCV000057650
RCV000150875
RCV000264808
RCV000324628
RCV000359475
RCV000360577
RCV000620004
RCV001094060
dbSNP Id:
rs1800172
ExAC:
11:2869129 G / A
gnomAD v2:
11-2869129-G-A
gnomAD v3:
11-2847899-G-A
gnomAD v4:
11-2847899-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.2847899G>A , CM000673.2:g.2847899G>A | GRCh38 |
| NC_000011.9:g.2869129G>A , CM000673.1:g.2869129G>A | GRCh37 |
| NC_000011.8:g.2825705G>A | NCBI36 |
| NG_008935.1:g.407909G>A , LRG_287:g.407909G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000496887.7:c.1570G>A (KCNQ1) | ENSP00000434560.2:p.Gly524Ser | |
| ENST00000155840.12:c.1927G>A (KCNQ1) MANE Select | ENSP00000155840.2:p.Gly643Ser | |
| ENST00000335475.6:c.1546G>A (KCNQ1) | ENSP00000334497.5:p.Gly516Ser | |
| ENST00000526095.2:c.331G>A (KCNQ1) | ENSP00000494939.1:p.Gly111Ser | |
| ENST00000155840.9:c.1927G>A (KCNQ1) | ENSP00000155840.2:p.Gly643Ser | |
| ENST00000335475.5:c.1546G>A (KCNQ1) | ENSP00000334497.5:p.Gly516Ser | |
| ENST00000526095.1:n.434G>A (KCNQ1) | ||
| NM_000218.2:c.1927G>A , LRG_287t1:c.1927G>A (KCNQ1) | NP_000209.2:p.Gly643Ser | |
| NM_181798.1:c.1546G>A , LRG_287t2:c.1546G>A (KCNQ1) | NP_861463.1:p.Gly516Ser | |
| NR_130721.1:n.778-7457C>T (KCNQ1-AS1) | ||
| NM_000218.3:c.1927G>A (KCNQ1) MANE Select | NP_000209.2:p.Gly643Ser |