Linked Data
dbSNP Id:
rs1849974478
gnomAD v3:
11-2662310-A-G
gnomAD v4:
11-2662310-A-G
MyVariant Identifiers:
chr11:g.2683540A>G (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.2662310A>G , CM000673.2:g.2662310A>G | GRCh38 |
| NC_000011.9:g.2683540A>G , CM000673.1:g.2683540A>G | GRCh37 |
| NC_000011.8:g.2640116A>G | NCBI36 |
| NG_008935.1:g.222320A>G , LRG_287:g.222320A>G | |
| NG_016178.2:g.42689T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000496887.7:c.1157+229A>G (KCNQ1) | ENSP00000434560.2:n.1157+229A>G | |
| ENST00000646564.2:c.974+229A>G (KCNQ1) | ENSP00000495806.2:n.974+229A>G | |
| ENST00000155840.12:c.1514+229A>G (KCNQ1) MANE Select | ENSP00000155840.2:n.1514+229A>G | |
| ENST00000335475.6:c.1133+229A>G (KCNQ1) | ENSP00000334497.5:n.1133+229A>G | |
| ENST00000646564.1:c.620+229A>G (KCNQ1) | ENSP00000495806.1:n.620+229A>G | |
| ENST00000155840.9:c.1514+229A>G (KCNQ1) | ENSP00000155840.2:n.1514+229A>G | |
| ENST00000335475.5:c.1133+229A>G (KCNQ1) | ENSP00000334497.5:n.1133+229A>G | |
| NM_000218.2:c.1514+229A>G , LRG_287t1:c.1514+229A>G (KCNQ1) | NP_000209.2:n.1514+229A>G | |
| NM_181798.1:c.1133+229A>G , LRG_287t2:c.1133+229A>G (KCNQ1) | NP_861463.1:n.1133+229A>G | |
| NR_002728.3:n.37689T>C (KCNQ1OT1) | ||
| NM_000218.3:c.1514+229A>G (KCNQ1) MANE Select | NP_000209.2:n.1514+229A>G |