Canonical Allele Identifier: CA475494484
Gene: ACTN3 HGNC NCBI

Linked Data

dbSNP Id: rs1417515441
gnomAD v4: 11-66560740-C-T
COSMIC: COSN15618835
MyVariant Identifiers: chr11:g.66328211C>T (hg19) chr11:g.66560740C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.66560740C>T , CM000673.2:g.66560740C>T GRCh38
NC_000011.9:g.66328211C>T , CM000673.1:g.66328211C>T GRCh37
NC_000011.8:g.66084787C>T NCBI36
NG_013304.2:g.18821C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000513398.2:c.1845C>T MANE Select ENSP00000426797.1:p.Asn615=
ENST00000502692.5:c.1974C>T ENSP00000422007.1:p.Asn658=
ENST00000513398.1:c.1845C>T ENSP00000426797.1:p.Asn615=
NM_001104.3:c.1845C>T NP_001095.2:p.Asn615=
NM_001258371.2:c.1974C>T NP_001245300.2:p.Asn658=
NM_001104.4:c.1845C>T MANE Select NP_001095.2:p.Asn615=
NM_001258371.3:c.1974C>T NP_001245300.2:p.Asn658=
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