Canonical Allele Identifier: CA475493914
Gene: ACTN3 HGNC NCBI

Linked Data

dbSNP Id: rs1291896452
gnomAD v2: 11-66327808-G-C
gnomAD v4: 11-66560337-G-C
MyVariant Identifiers: chr11:g.66327808G>C (hg19) chr11:g.66560337G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.66560337G>C , CM000673.2:g.66560337G>C GRCh38
NC_000011.9:g.66327808G>C , CM000673.1:g.66327808G>C GRCh37
NC_000011.8:g.66084384G>C NCBI36
NG_013304.2:g.18418G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000513398.2:c.1677+26G>C MANE Select ENSP00000426797.1:n.1677+26G>C
ENST00000502692.5:c.1806+26G>C ENSP00000422007.1:n.1806+26G>C
ENST00000513398.1:c.1677+26G>C ENSP00000426797.1:n.1677+26G>C
NM_001104.3:c.1677+26G>C NP_001095.2:n.1677+26G>C
NM_001258371.2:c.1806+26G>C NP_001245300.2:n.1806+26G>C
NM_001104.4:c.1677+26G>C MANE Select NP_001095.2:n.1677+26G>C
NM_001258371.3:c.1806+26G>C NP_001245300.2:n.1806+26G>C
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