Canonical Allele Identifier: CA381447173

Gene: ACTN3

Linked Data

• gnomAD v4: 11-66560590-C-G
• MyVariant Identifiers: chr11:g.66328061C>G (hg19) ; chr11:g.66560590C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.66560590C>G , CM000673.2:g.66560590C>G	GRCh38
NC_000011.9:g.66328061C>G , CM000673.1:g.66328061C>G	GRCh37
NC_000011.8:g.66084637C>G	NCBI36
NG_013304.2:g.18671C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000513398.2:c.1695C>G MANE Select	ENSP00000426797.1:p.His565Gln
ENST00000502692.5:c.1824C>G	ENSP00000422007.1:p.His608Gln
ENST00000513398.1:c.1695C>G	ENSP00000426797.1:p.His565Gln
NM_001104.3:c.1695C>G	NP_001095.2:p.His565Gln
NM_001258371.2:c.1824C>G	NP_001245300.2:p.His608Gln
NM_001104.4:c.1695C>G MANE Select	NP_001095.2:p.His565Gln
NM_001258371.3:c.1824C>G	NP_001245300.2:p.His608Gln