Linked Data
dbSNP Id:
rs10832417
gnomAD v2:
11-2652657-T-G
gnomAD v3:
11-2631427-T-G
gnomAD v4:
11-2631427-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.2631427T>G , CM000673.2:g.2631427T>G | GRCh38 |
| NC_000011.9:g.2652657T>G , CM000673.1:g.2652657T>G | GRCh37 |
| NC_000011.8:g.2609233T>G | NCBI36 |
| NG_008935.1:g.191437T>G , LRG_287:g.191437T>G | |
| NG_016178.2:g.73572A>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000496887.7:c.1037-30534T>G (KCNQ1) | ENSP00000434560.2:n.1037-30534T>G | |
| ENST00000646564.2:c.854-30534T>G (KCNQ1) | ENSP00000495806.2:n.854-30534T>G | |
| ENST00000155840.12:c.1394-30534T>G (KCNQ1) MANE Select | ENSP00000155840.2:n.1394-30534T>G | |
| ENST00000335475.6:c.1013-30534T>G (KCNQ1) | ENSP00000334497.5:n.1013-30534T>G | |
| ENST00000646564.1:c.500-30534T>G (KCNQ1) | ENSP00000495806.1:n.500-30534T>G | |
| ENST00000155840.9:c.1394-30534T>G (KCNQ1) | ENSP00000155840.2:n.1394-30534T>G | |
| ENST00000335475.5:c.1013-30534T>G (KCNQ1) | ENSP00000334497.5:n.1013-30534T>G | |
| NM_000218.2:c.1394-30534T>G , LRG_287t1:c.1394-30534T>G (KCNQ1) | NP_000209.2:n.1394-30534T>G | |
| NM_181798.1:c.1013-30534T>G , LRG_287t2:c.1013-30534T>G (KCNQ1) | NP_861463.1:n.1013-30534T>G | |
| NR_002728.3:n.68572A>C (KCNQ1OT1) | ||
| NM_000218.3:c.1394-30534T>G (KCNQ1) MANE Select | NP_000209.2:n.1394-30534T>G |