Linked Data
ClinVar Variation Id:
1115916
ClinVar RCV Id:
RCV001444130
dbSNP Id:
rs368615623
ExAC:
11:118895977 A / G
gnomAD v2:
11-118895977-A-G
gnomAD v4:
11-119025267-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.119025267A>G , CM000673.2:g.119025267A>G | GRCh38 |
| NC_000011.9:g.118895977A>G , CM000673.1:g.118895977A>G | GRCh37 |
| NC_000011.8:g.118401187A>G | NCBI36 |
| NG_013331.1:g.10639T>C , LRG_187:g.10639T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000529510.6:n.1257T>C (SLC37A4) | ||
| ENST00000697845.1:n.2246T>C (SLC37A4) | ||
| ENST00000697846.1:n.1619T>C (SLC37A4) | ||
| ENST00000697847.1:n.1330T>C (SLC37A4) | ||
| ENST00000697849.1:n.3723T>C (SLC37A4) | ||
| ENST00000697850.1:n.1914T>C (SLC37A4) | ||
| ENST00000697851.1:n.2885T>C (SLC37A4) | ||
| ENST00000638186.1:n.1351T>C (SLC37A4) | ||
| ENST00000638360.1:n.1183T>C (SLC37A4) | ||
| ENST00000638925.1:n.1316T>C (SLC37A4) | ||
| ENST00000650539.1:n.1519T>C (SLC37A4) | ||
| ENST00000330775.9:c.1047T>C (SLC37A4) | ENSP00000476242.2:p.Phe349= | |
| ENST00000357590.9:c.1113T>C (SLC37A4) | ENSP00000476176.2:p.Phe371= | |
| ENST00000524428.5:n.1283T>C (SLC37A4) | ||
| ENST00000525039.5:n.1537T>C (SLC37A4) | ||
| ENST00000525102.5:n.1805T>C (SLC37A4) | ||
| ENST00000525372.5:n.1145T>C (SLC37A4) | ||
| ENST00000526275.5:n.1829T>C (SLC37A4) | ||
| ENST00000527992.5:n.1275T>C (SLC37A4) | ||
| ENST00000529510.5:n.735T>C (SLC37A4) | ||
| ENST00000530407.5:n.1197T>C (SLC37A4) | ||
| ENST00000532085.1:n.5065T>C (SLC37A4) | ||
| ENST00000533058.5:c.*218A>G (TRAPPC4) | ENSP00000432920.1:n.*218A>G | |
| ENST00000538950.5:c.828T>C (SLC37A4) | ENSP00000475991.2:p.Phe276= | |
| ENST00000545985.5:c.1047T>C (SLC37A4) | ENSP00000475241.2:p.Phe349= | |
| NM_001164277.1:c.1047T>C , LRG_187t1:c.1047T>C (SLC37A4) | NP_001157749.1:p.Phe349= | |
| NM_001164278.1:c.1113T>C (SLC37A4) | NP_001157750.1:p.Phe371= | |
| NM_001164279.1:c.828T>C (SLC37A4) | NP_001157751.1:p.Phe276= | |
| NM_001164280.1:c.1047T>C (SLC37A4) | NP_001157752.1:p.Phe349= | |
| NM_001467.5:c.1047T>C (SLC37A4) | NP_001458.1:p.Phe349= | |
| NM_001164278.2:c.1113T>C (SLC37A4) | NP_001157750.1:p.Phe371= | |
| NM_001164279.2:c.828T>C (SLC37A4) | NP_001157751.1:p.Phe276= | |
| NM_001164280.2:c.1047T>C (SLC37A4) | NP_001157752.1:p.Phe349= | |
| NM_001467.6:c.1047T>C (SLC37A4) | NP_001458.1:p.Phe349= | |
| NM_001164277.2:c.1047T>C (SLC37A4) MANE Select | NP_001157749.1:p.Phe349= |