Canonical Allele Identifier: CA599867652

Gene: ACTN3

Linked Data

• dbSNP Id: rs1342716128
• gnomAD v2: 11-66328273-G-T
• gnomAD v4: 11-66560802-G-T
• MyVariant Identifiers: chr11:g.66328273G>T (hg19) ; chr11:g.66560802G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.66560802G>T , CM000673.2:g.66560802G>T	GRCh38
NC_000011.9:g.66328273G>T , CM000673.1:g.66328273G>T	GRCh37
NC_000011.8:g.66084849G>T	NCBI36
NG_013304.2:g.18883G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000513398.2:c.1860+47G>T MANE Select	ENSP00000426797.1:n.1860+47G>T
ENST00000502692.5:c.1989+47G>T	ENSP00000422007.1:n.1989+47G>T
ENST00000513398.1:c.1860+47G>T	ENSP00000426797.1:n.1860+47G>T
NM_001104.3:c.1860+47G>T	NP_001095.2:n.1860+47G>T
NM_001258371.2:c.1989+47G>T	NP_001245300.2:n.1989+47G>T
NM_001104.4:c.1860+47G>T MANE Select	NP_001095.2:n.1860+47G>T
NM_001258371.3:c.1989+47G>T	NP_001245300.2:n.1989+47G>T