Canonical Allele Identifier: CA381447577

Gene: ACTN3

Linked Data

• gnomAD v4: 11-66560653-G-C
• MyVariant Identifiers: chr11:g.66328124G>C (hg19) ; chr11:g.66560653G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.66560653G>C , CM000673.2:g.66560653G>C	GRCh38
NC_000011.9:g.66328124G>C , CM000673.1:g.66328124G>C	GRCh37
NC_000011.8:g.66084700G>C	NCBI36
NG_013304.2:g.18734G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000513398.2:c.1758G>C MANE Select	ENSP00000426797.1:p.Gln586His
ENST00000502692.5:c.1887G>C	ENSP00000422007.1:p.Gln629His
ENST00000513398.1:c.1758G>C	ENSP00000426797.1:p.Gln586His
NM_001104.3:c.1758G>C	NP_001095.2:p.Gln586His
NM_001258371.2:c.1887G>C	NP_001245300.2:p.Gln629His
NM_001104.4:c.1758G>C MANE Select	NP_001095.2:p.Gln586His
NM_001258371.3:c.1887G>C	NP_001245300.2:p.Gln629His