This is a test version of the ClinGen Allele Registry and hosts obsolete or unreal identifiers. Please visit here for the production version.
ClinVar RCV:
ClinVar Variation:
dbSNP:
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00017985 (NFE)
Genomes Max Group AF
0.0003922 (NFE)
Exomes Max Group AF
0.00016029 (NFE)
Revel Score:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.10445019G>A , CM000679.2:g.10445019G>A | GRCh38 |
| NC_000017.10:g.10348336G>A , CM000679.1:g.10348336G>A | GRCh37 |
| NC_000017.9:g.10289061G>A | NCBI36 |
| NG_052846.1:g.29541C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000255381.2:c.5423C>T (MYH4) MANE Select | ENSP00000255381.2:p.Ala1808Val | |
| NM_017533.2:c.5423C>T (MYH4) MANE Select | NP_060003.2:p.Ala1808Val | |
| NR_125367.1:n.167+38781G>A (MYHAS) | ||
| XM_017024676.1:c.5423C>T (MYH4) | XP_016880165.1:p.Ala1808Val |