Linked Data
ClinVar Variation Id:
7510
ClinVar RCV Id:
RCV000007939
dbSNP Id:
rs121912644
gnomAD v4:
1-180274568-C-A
PubMed:
PMID:17527005
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.180274568C>A , CM000663.2:g.180274568C>A | GRCh38 |
| NC_000001.10:g.180243703C>A , CM000663.1:g.180243703C>A | GRCh37 |
| NC_000001.9:g.178510326C>A | NCBI36 |
| NG_008081.1:g.49262C>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000263726.4:c.1162C>A (LHX4) MANE Select | ENSP00000263726.2:p.Pro388Thr | |
| ENST00000642319.1:c.*936+83G>T (ACBD6) | ENSP00000495710.1:n.*936+83G>T | |
| ENST00000645415.1:c.*1169+83G>T (ACBD6) | ENSP00000494507.1:n.*1169+83G>T | |
| ENST00000263726.3:c.1162C>A (LHX4) | ENSP00000263726.2:p.Pro388Thr | |
| ENST00000415414.5:n.31+83G>T (ACBD6) | ||
| ENST00000440959.2:n.1574+83G>T (ACBD6) | ||
| ENST00000622400.1:n.63+83G>T (ACBD6) | ||
| NM_033343.3:c.1162C>A (LHX4) | NP_203129.1:p.Pro388Thr | |
| NR_037642.1:n.31+83G>T (LHX4-AS1) | ||
| XM_011510105.1:c.979C>A (LHX4) | XP_011508407.1:p.Pro327Thr | |
| XM_011510106.1:c.979C>A (LHX4) | XP_011508408.1:p.Pro327Thr | |
| XM_011510107.1:c.937C>A (LHX4) | XP_011508409.1:p.Pro313Thr | |
| XM_011510108.1:c.937C>A (LHX4) | XP_011508410.1:p.Pro313Thr | |
| XM_011510105.2:c.979C>A (LHX4) | XP_011508407.1:p.Pro327Thr | |
| XM_011510106.3:c.979C>A (LHX4) | XP_011508408.1:p.Pro327Thr | |
| XM_011510108.2:c.937C>A (LHX4) | XP_011508410.1:p.Pro313Thr | |
| XM_017002755.1:c.937C>A (LHX4) | XP_016858244.1:p.Pro313Thr | |
| XR_001737484.2:n.2179G>T (ACBD6) | ||
| XR_001737485.2:n.2162G>T (ACBD6) | ||
| XR_002957801.1:n.2081G>T (ACBD6) | ||
| XR_921977.3:n.2306G>T (ACBD6) | ||
| XR_921978.3:n.2310G>T (ACBD6) | ||
| NM_033343.4:c.1162C>A (LHX4) MANE Select | NP_203129.1:p.Pro388Thr |