gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.34576923 (EAS)
Genomes Max Group AF
0.34590653 (EAS)
Exomes Max Group AF
0.15681166 (AFR)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.79422176T>C , CM000673.2:g.79422176T>C | GRCh38 |
| NC_000011.9:g.79133220T>C , CM000673.1:g.79133220T>C | GRCh37 |
| NC_000011.8:g.78810868T>C | NCBI36 |
| NG_051803.1:g.23476A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000278550.12:c.-321+18333A>G (TENM4) MANE Select | ENSP00000278550.7:n.-321+18333A>G | |
| ENST00000278550.11:c.-321+18333A>G (TENM4) | ENSP00000278550.7:n.-321+18333A>G | |
| ENST00000528688.5:n.239+16786A>G (TENM4) | ||
| ENST00000531583.1:n.440+18333A>G (TENM4) | ||
| NM_001098816.2:c.-321+18333A>G (TENM4) | NP_001092286.2:n.-321+18333A>G | |
| NR_049841.1:n.51A>G (MIR5579) | ||
| XM_011544924.1:c.-149+18333A>G (TENM4) | XP_011543226.1:n.-149+18333A>G | |
| XM_011544925.1:c.-293+18333A>G (TENM4) | XP_011543227.1:n.-293+18333A>G | |
| XM_011544927.1:c.-149+18333A>G (TENM4) | XP_011543229.1:n.-149+18333A>G | |
| XM_011544928.1:c.-321+18333A>G (TENM4) | XP_011543230.1:n.-321+18333A>G | |
| XM_011544929.1:c.-149+18333A>G (TENM4) | XP_011543231.1:n.-149+18333A>G | |
| XM_011544930.1:c.-661+18333A>G (TENM4) | XP_011543232.1:n.-661+18333A>G | |
| XM_017017525.1:c.-149+18333A>G (TENM4) | XP_016873014.1:n.-149+18333A>G | |
| NM_001098816.3:c.-321+18333A>G (TENM4) MANE Select | NP_001092286.2:n.-321+18333A>G |