Canonical Allele Identifier: CA6124612
Gene: ACTN3 HGNC NCBI
MyVariant.info:
GRCh38 chr11:g.66558137C>A
GRCh37 chr11:g.66325608C>A
gnomAD v2:
11:66325608 C / A
gnomAD v3:
11:66558137 C / A
gnomAD v4:
chr11-66558137-C-A
Joint Max Group AF 0.00003422 (NFE)
Genomes Max Group AF 0.0000117 (NFE)
Exomes Max Group AF 0.00003373 (NFE)
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.66558137C>A , CM000673.2:g.66558137C>A GRCh38
NC_000011.9:g.66325608C>A , CM000673.1:g.66325608C>A GRCh37
NC_000011.8:g.66082184C>A NCBI36
NG_013304.2:g.16218C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000513398.2:c.1239C>A MANE Select ENSP00000426797.1:p.Phe413Leu
ENST00000502692.5:c.1368C>A ENSP00000422007.1:p.Phe456Leu
ENST00000513398.1:c.1239C>A ENSP00000426797.1:p.Phe413Leu
NM_001104.3:c.1239C>A NP_001095.2:p.Phe413Leu
NM_001258371.2:c.1368C>A NP_001245300.2:p.Phe456Leu
NM_001104.4:c.1239C>A MANE Select NP_001095.2:p.Phe413Leu
NM_001258371.3:c.1368C>A NP_001245300.2:p.Phe456Leu
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