Linked Data
ClinVar Variation Id:
293876
ClinVar RCV Id:
RCV000324066
dbSNP Id:
rs145063714
gnomAD v2:
1-180243811-T-G
gnomAD v3:
1-180274676-T-G
gnomAD v4:
1-180274676-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.180274676T>G , CM000663.2:g.180274676T>G | GRCh38 |
| NC_000001.10:g.180243811T>G , CM000663.1:g.180243811T>G | GRCh37 |
| NC_000001.9:g.178510434T>G | NCBI36 |
| NG_008081.1:g.49370T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000263726.4:c.*97T>G (LHX4) MANE Select | ENSP00000263726.2:n.*97T>G | |
| ENST00000642319.1:c.*911A>C (ACBD6) | ENSP00000495710.1:n.*911A>C | |
| ENST00000645415.1:c.*1144A>C (ACBD6) | ENSP00000494507.1:n.*1144A>C | |
| ENST00000263726.3:c.*97T>G (LHX4) | ENSP00000263726.2:n.*97T>G | |
| ENST00000415414.5:n.6A>C (ACBD6) | ||
| ENST00000440959.2:n.1549A>C (ACBD6) | ||
| ENST00000622400.1:n.38A>C (ACBD6) | ||
| NM_033343.3:c.*97T>G (LHX4) | NP_203129.1:n.*97T>G | |
| NR_037642.1:n.6A>C (LHX4-AS1) | ||
| XM_011510107.1:c.*97T>G (LHX4) | XP_011508409.1:n.*97T>G | |
| XM_011510108.1:c.*97T>G (LHX4) | XP_011508410.1:n.*97T>G | |
| XM_011510105.2:c.*97T>G (LHX4) | XP_011508407.1:n.*97T>G | |
| XM_011510106.3:c.*97T>G (LHX4) | XP_011508408.1:n.*97T>G | |
| XM_011510108.2:c.*97T>G (LHX4) | XP_011508410.1:n.*97T>G | |
| XM_017002755.1:c.*97T>G (LHX4) | XP_016858244.1:n.*97T>G | |
| XR_001737484.2:n.2071A>C (ACBD6) | ||
| XR_001737485.2:n.2054A>C (ACBD6) | ||
| XR_002957801.1:n.1973A>C (ACBD6) | ||
| XR_921977.3:n.2198A>C (ACBD6) | ||
| XR_921978.3:n.2202A>C (ACBD6) | ||
| NM_033343.4:c.*97T>G (LHX4) MANE Select | NP_203129.1:n.*97T>G |