Linked Data
dbSNP Id:
rs1227037407
gnomAD v2:
11-2683151-GT-G
gnomAD v3:
11-2661921-GT-G
gnomAD v4:
11-2661921-GT-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.2661922del , CM000673.2:g.2661922del | GRCh38 |
| NC_000011.9:g.2683152del , CM000673.1:g.2683152del | GRCh37 |
| NC_000011.8:g.2639728del | NCBI36 |
| NG_008935.1:g.221932del , LRG_287:g.221932del | |
| NG_016178.2:g.43077del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000496887.7:c.1037-39del (KCNQ1) | ENSP00000434560.2:n.1037-39del | |
| ENST00000646564.2:c.854-39del (KCNQ1) | ENSP00000495806.2:n.854-39del | |
| ENST00000155840.12:c.1394-39del (KCNQ1) MANE Select | ENSP00000155840.2:n.1394-39del | |
| ENST00000335475.6:c.1013-39del (KCNQ1) | ENSP00000334497.5:n.1013-39del | |
| ENST00000646564.1:c.500-39del (KCNQ1) | ENSP00000495806.1:n.500-39del | |
| ENST00000155840.9:c.1394-39del (KCNQ1) | ENSP00000155840.2:n.1394-39del | |
| ENST00000335475.5:c.1013-39del (KCNQ1) | ENSP00000334497.5:n.1013-39del | |
| NM_000218.2:c.1394-39del , LRG_287t1:c.1394-39del (KCNQ1) | NP_000209.2:n.1394-39del | |
| NM_181798.1:c.1013-39del , LRG_287t2:c.1013-39del (KCNQ1) | NP_861463.1:n.1013-39del | |
| NR_002728.3:n.38077del (KCNQ1OT1) | ||
| NM_000218.3:c.1394-39del (KCNQ1) MANE Select | NP_000209.2:n.1394-39del |