Canonical Allele Identifier: CA6124802
Gene: ACTN3 HGNC NCBI

Linked Data

ClinVar Variation Id: 3141964
ClinVar RCV Id: RCV004431300
dbSNP Id: rs771486650
ExAC: 11:66327768 G / T
gnomAD v2: 11-66327768-G-T
gnomAD v3: 11-66560297-G-T
gnomAD v4: 11-66560297-G-T
MyVariant Identifiers: chr11:g.66327768G>T (hg19) chr11:g.66560297G>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.66560297G>T , CM000673.2:g.66560297G>T GRCh38
NC_000011.9:g.66327768G>T , CM000673.1:g.66327768G>T GRCh37
NC_000011.8:g.66084344G>T NCBI36
NG_013304.2:g.18378G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000513398.2:c.1663G>T MANE Select ENSP00000426797.1:p.Val555Leu
ENST00000502692.5:c.1792G>T ENSP00000422007.1:p.Val598Leu
ENST00000513398.1:c.1663G>T ENSP00000426797.1:p.Val555Leu
NM_001104.3:c.1663G>T NP_001095.2:p.Val555Leu
NM_001258371.2:c.1792G>T NP_001245300.2:p.Val598Leu
NM_001104.4:c.1663G>T MANE Select NP_001095.2:p.Val555Leu
NM_001258371.3:c.1792G>T NP_001245300.2:p.Val598Leu
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