Linked Data
ClinVar Variation Id:
189234
ClinVar RCV Id:
RCV000169664
dbSNP Id:
rs786204780
gnomAD v3:
1-180271378-A-C
gnomAD v4:
1-180271378-A-C
PubMed:
PMID:23990694
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.180271378A>C , CM000663.2:g.180271378A>C | GRCh38 |
| NC_000001.10:g.180240513A>C , CM000663.1:g.180240513A>C | GRCh37 |
| NC_000001.9:g.178507136A>C | NCBI36 |
| NG_008081.1:g.46072A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000263726.4:c.452-2A>C (LHX4) MANE Select | ENSP00000263726.2:n.452-2A>C | |
| ENST00000642319.1:c.*1847T>G (ACBD6) | ENSP00000495710.1:n.*1847T>G | |
| ENST00000645415.1:c.*2080T>G (ACBD6) | ENSP00000494507.1:n.*2080T>G | |
| ENST00000263726.3:c.452-2A>C (LHX4) | ENSP00000263726.2:n.452-2A>C | |
| ENST00000415414.5:n.942T>G (ACBD6) | ||
| ENST00000561113.1:c.389-2A>C (LHX4) | ||
| NM_033343.3:c.452-2A>C (LHX4) | NP_203129.1:n.452-2A>C | |
| NR_037642.1:n.942T>G (LHX4-AS1) | ||
| XM_011510105.1:c.269-2A>C (LHX4) | XP_011508407.1:n.269-2A>C | |
| XM_011510106.1:c.269-2A>C (LHX4) | XP_011508408.1:n.269-2A>C | |
| XM_011510107.1:c.227-2A>C (LHX4) | XP_011508409.1:n.227-2A>C | |
| XM_011510108.1:c.227-2A>C (LHX4) | XP_011508410.1:n.227-2A>C | |
| XM_011510105.2:c.269-2A>C (LHX4) | XP_011508407.1:n.269-2A>C | |
| XM_011510106.3:c.269-2A>C (LHX4) | XP_011508408.1:n.269-2A>C | |
| XM_011510108.2:c.227-2A>C (LHX4) | XP_011508410.1:n.227-2A>C | |
| XM_017002755.1:c.227-2A>C (LHX4) | XP_016858244.1:n.227-2A>C | |
| XR_001737484.2:n.5369T>G (ACBD6) | ||
| XR_001737485.2:n.5352T>G (ACBD6) | ||
| XR_002957801.1:n.5271T>G (ACBD6) | ||
| XR_921977.3:n.5496T>G (ACBD6) | ||
| XR_921978.3:n.5500T>G (ACBD6) | ||
| NM_033343.4:c.452-2A>C (LHX4) MANE Select | NP_203129.1:n.452-2A>C |