Linked Data
ClinVar Variation Id:
551128
ClinVar RCV Id:
RCV000666106
dbSNP Id:
rs369243698
ExAC:
11:118895613 A / C
gnomAD v2:
11-118895613-A-C
gnomAD v3:
11-119024903-A-C
gnomAD v4:
11-119024903-A-C
MyVariant Identifiers:
chr11:g.118895613A>C (hg19)
chr11:g.118895613_118895615delinsCCT (hg19)
chr11:g.119024903A>C (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.119024903A>C , CM000673.2:g.119024903A>C | GRCh38 |
| NC_000011.9:g.118895613A>C , CM000673.1:g.118895613A>C | GRCh37 |
| NC_000011.8:g.118400823A>C | NCBI36 |
| NG_013331.1:g.11003T>G , LRG_187:g.11003T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000529510.6:n.1507T>G (SLC37A4) | ||
| ENST00000697845.1:n.2496T>G (SLC37A4) | ||
| ENST00000697846.1:n.1869T>G (SLC37A4) | ||
| ENST00000697847.1:n.1580T>G (SLC37A4) | ||
| ENST00000697849.1:n.3973T>G (SLC37A4) | ||
| ENST00000697850.1:n.2164T>G (SLC37A4) | ||
| ENST00000697851.1:n.3135T>G (SLC37A4) | ||
| ENST00000638186.1:n.1601T>G (SLC37A4) | ||
| ENST00000638360.1:n.1433T>G (SLC37A4) | ||
| ENST00000638925.1:n.1566T>G (SLC37A4) | ||
| ENST00000650539.1:n.1769T>G (SLC37A4) | ||
| ENST00000330775.9:c.*7T>G (SLC37A4) | ENSP00000476242.2:n.*7T>G | |
| ENST00000357590.9:c.*7T>G (SLC37A4) | ENSP00000476176.2:n.*7T>G | |
| ENST00000525102.5:n.2055T>G (SLC37A4) | ||
| ENST00000526275.5:n.2079T>G (SLC37A4) | ||
| ENST00000527992.5:n.1525T>G (SLC37A4) | ||
| ENST00000530407.5:n.1447T>G (SLC37A4) | ||
| ENST00000532085.1:n.5315T>G (SLC37A4) | ||
| ENST00000533058.5:c.628A>C (TRAPPC4) | ENSP00000432920.1:p.Thr210Pro | |
| ENST00000538950.5:c.*7T>G (SLC37A4) | ENSP00000475991.2:n.*7T>G | |
| ENST00000545985.5:c.*7T>G (SLC37A4) | ENSP00000475241.2:n.*7T>G | |
| NM_001164277.1:c.*7T>G , LRG_187t1:c.*7T>G (SLC37A4) | NP_001157749.1:n.*7T>G | |
| NM_001164278.1:c.*7T>G (SLC37A4) | NP_001157750.1:n.*7T>G | |
| NM_001164279.1:c.*7T>G (SLC37A4) | NP_001157751.1:n.*7T>G | |
| NM_001164280.1:c.*7T>G (SLC37A4) | NP_001157752.1:n.*7T>G | |
| NM_001467.5:c.*7T>G (SLC37A4) | NP_001458.1:n.*7T>G | |
| NM_001164278.2:c.*7T>G (SLC37A4) | NP_001157750.1:n.*7T>G | |
| NM_001164279.2:c.*7T>G (SLC37A4) | NP_001157751.1:n.*7T>G | |
| NM_001164280.2:c.*7T>G (SLC37A4) | NP_001157752.1:n.*7T>G | |
| NM_001467.6:c.*7T>G (SLC37A4) | NP_001458.1:n.*7T>G | |
| NM_001164277.2:c.*7T>G (SLC37A4) MANE Select | NP_001157749.1:n.*7T>G |