Linked Data
ClinVar Variation Id:
7507
ClinVar RCV Id:
RCV000007936
dbSNP Id:
rs121912641
PubMed:
PMID:18073311
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.180271856G>C , CM000663.2:g.180271856G>C | GRCh38 |
| NC_000001.10:g.180240991G>C , CM000663.1:g.180240991G>C | GRCh37 |
| NC_000001.9:g.178507614G>C | NCBI36 |
| NG_008081.1:g.46550G>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000263726.4:c.628G>C (LHX4) MANE Select | ENSP00000263726.2:p.Ala210Pro | |
| ENST00000642319.1:c.*1369C>G (ACBD6) | ENSP00000495710.1:n.*1369C>G | |
| ENST00000645415.1:c.*1602C>G (ACBD6) | ENSP00000494507.1:n.*1602C>G | |
| ENST00000263726.3:c.628G>C (LHX4) | ENSP00000263726.2:p.Ala210Pro | |
| ENST00000415414.5:n.464C>G (ACBD6) | ||
| ENST00000561113.1:c.565G>C (LHX4) | ||
| NM_033343.3:c.628G>C (LHX4) | NP_203129.1:p.Ala210Pro | |
| NR_037642.1:n.464C>G (LHX4-AS1) | ||
| XM_011510105.1:c.445G>C (LHX4) | XP_011508407.1:p.Ala149Pro | |
| XM_011510106.1:c.445G>C (LHX4) | XP_011508408.1:p.Ala149Pro | |
| XM_011510107.1:c.403G>C (LHX4) | XP_011508409.1:p.Ala135Pro | |
| XM_011510108.1:c.403G>C (LHX4) | XP_011508410.1:p.Ala135Pro | |
| XM_011510105.2:c.445G>C (LHX4) | XP_011508407.1:p.Ala149Pro | |
| XM_011510106.3:c.445G>C (LHX4) | XP_011508408.1:p.Ala149Pro | |
| XM_011510108.2:c.403G>C (LHX4) | XP_011508410.1:p.Ala135Pro | |
| XM_017002755.1:c.403G>C (LHX4) | XP_016858244.1:p.Ala135Pro | |
| XR_001737484.2:n.4891C>G (ACBD6) | ||
| XR_001737485.2:n.4874C>G (ACBD6) | ||
| XR_002957801.1:n.4793C>G (ACBD6) | ||
| XR_921977.3:n.5018C>G (ACBD6) | ||
| XR_921978.3:n.5022C>G (ACBD6) | ||
| NM_033343.4:c.628G>C (LHX4) MANE Select | NP_203129.1:p.Ala210Pro |