Canonical Allele Identifier: CA6124818
Gene: ACTN3 HGNC NCBI

Linked Data

dbSNP Id: rs746538611
ExAC: 11:66327830 C / A
gnomAD v2: 11-66327830-C-A
gnomAD v4: 11-66560359-C-A
MyVariant Identifiers: chr11:g.66327830C>A (hg19) chr11:g.66560359C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.66560359C>A , CM000673.2:g.66560359C>A GRCh38
NC_000011.9:g.66327830C>A , CM000673.1:g.66327830C>A GRCh37
NC_000011.8:g.66084406C>A NCBI36
NG_013304.2:g.18440C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000513398.2:c.1677+48C>A MANE Select ENSP00000426797.1:n.1677+48C>A
ENST00000502692.5:c.1806+48C>A ENSP00000422007.1:n.1806+48C>A
ENST00000513398.1:c.1677+48C>A ENSP00000426797.1:n.1677+48C>A
NM_001104.3:c.1677+48C>A NP_001095.2:n.1677+48C>A
NM_001258371.2:c.1806+48C>A NP_001245300.2:n.1806+48C>A
NM_001104.4:c.1677+48C>A MANE Select NP_001095.2:n.1677+48C>A
NM_001258371.3:c.1806+48C>A NP_001245300.2:n.1806+48C>A
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