Canonical Allele Identifier: CA599867649
Gene: ACTN3 HGNC NCBI

Linked Data

dbSNP Id: rs747231690
gnomAD v2: 11-66328258-C-T
gnomAD v3: 11-66560787-C-T
gnomAD v4: 11-66560787-C-T
MyVariant Identifiers: chr11:g.66328258C>T (hg19) chr11:g.66560787C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.66560787C>T , CM000673.2:g.66560787C>T GRCh38
NC_000011.9:g.66328258C>T , CM000673.1:g.66328258C>T GRCh37
NC_000011.8:g.66084834C>T NCBI36
NG_013304.2:g.18868C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000513398.2:c.1860+32C>T MANE Select ENSP00000426797.1:n.1860+32C>T
ENST00000502692.5:c.1989+32C>T ENSP00000422007.1:n.1989+32C>T
ENST00000513398.1:c.1860+32C>T ENSP00000426797.1:n.1860+32C>T
NM_001104.3:c.1860+32C>T NP_001095.2:n.1860+32C>T
NM_001258371.2:c.1989+32C>T NP_001245300.2:n.1989+32C>T
NM_001104.4:c.1860+32C>T MANE Select NP_001095.2:n.1860+32C>T
NM_001258371.3:c.1989+32C>T NP_001245300.2:n.1989+32C>T
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