Canonical Allele Identifier: CA128040
Gene: ACTN3 HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 18312
dbSNP Id: rs1815739
MyVariant Identifiers: chr11:g.66560624C>T (hg38)

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.66560624C>T , CM000673.2:g.66560624C>T GRCh38
NG_013304.2:g.18705C>T

Transcript Alleles

HGVS Amino-acid change
NM_001104.3:c.1729C>T VV NP_001095.2:p.Arg577Ter
NM_001258371.2:c.1858C>T VV NP_001245300.2:p.Arg620Ter
NM_001104.4:c.1729C>T VV MANE Preferred NP_001095.2:p.Arg577Ter
ENST00000502692.5:c.1858C>T ENSP00000422007.1:p.Arg620Ter
ENST00000513398.1:c.1729C>T ENSP00000426797.1:p.Arg577Ter