Linked Data
dbSNP Id:
rs1410336926
gnomAD v2:
11-2639633-C-A
gnomAD v3:
11-2618403-C-A
gnomAD v4:
11-2618403-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.2618403C>A , CM000673.2:g.2618403C>A | GRCh38 |
| NC_000011.9:g.2639633C>A , CM000673.1:g.2639633C>A | GRCh37 |
| NC_000011.8:g.2596209C>A | NCBI36 |
| NG_008935.1:g.178413C>A , LRG_287:g.178413C>A | |
| NG_016178.2:g.86596G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000496887.7:c.1036+29549C>A (KCNQ1) | ENSP00000434560.2:n.1036+29549C>A | |
| ENST00000646564.2:c.853+29549C>A (KCNQ1) | ENSP00000495806.2:n.853+29549C>A | |
| ENST00000155840.12:c.1393+29549C>A (KCNQ1) MANE Select | ENSP00000155840.2:n.1393+29549C>A | |
| ENST00000335475.6:c.1012+29549C>A (KCNQ1) | ENSP00000334497.5:n.1012+29549C>A | |
| ENST00000646564.1:c.499+29549C>A (KCNQ1) | ENSP00000495806.1:n.499+29549C>A | |
| ENST00000155840.9:c.1393+29549C>A (KCNQ1) | ENSP00000155840.2:n.1393+29549C>A | |
| ENST00000335475.5:c.1012+29549C>A (KCNQ1) | ENSP00000334497.5:n.1012+29549C>A | |
| NM_000218.2:c.1393+29549C>A , LRG_287t1:c.1393+29549C>A (KCNQ1) | NP_000209.2:n.1393+29549C>A | |
| NM_181798.1:c.1012+29549C>A , LRG_287t2:c.1012+29549C>A (KCNQ1) | NP_861463.1:n.1012+29549C>A | |
| NR_002728.3:n.81596G>T (KCNQ1OT1) | ||
| NM_000218.3:c.1393+29549C>A (KCNQ1) MANE Select | NP_000209.2:n.1393+29549C>A |