Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.81732744C>G , CM000670.2:g.81732744C>G | GRCh38 |
| NC_000008.10:g.82644979C>G , CM000670.1:g.82644979C>G | GRCh37 |
| NC_000008.9:g.82807534C>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000297265.5:c.118C>G (CHMP4C) MANE Select | ENSP00000297265.4:p.Gln40Glu | |
| ENST00000297265.4:c.118C>G (CHMP4C) | ENSP00000297265.4:p.Gln40Glu | |
| ENST00000517353.5:n.151+9G>C (ZFAND1) | ||
| ENST00000523361.5:c.-227+9G>C (ZFAND1) | ENSP00000427957.1:n.-227+9G>C | |
| NM_152284.3:c.118C>G (CHMP4C) | NP_689497.1:p.Gln40Glu | |
| NM_152284.4:c.118C>G (CHMP4C) MANE Select | NP_689497.1:p.Gln40Glu |