Canonical Allele Identifier: CA10605479

Gene: CAPN3

Linked Data

• ClinVar Variation Id: 286477
• ClinVar RCV Id: RCV000267747 ; RCV000669446 ; RCV002494858 ; RCV003463765
• dbSNP Id: rs557164942
• gnomAD v2: 15-42693961-C-G
• gnomAD v3: 15-42401763-C-G
• gnomAD v4: 15-42401763-C-G
• MyVariant Identifiers: chr15:g.42693961C>G (hg19) ; chr15:g.42401763C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.42401763C>G , CM000677.2:g.42401763C>G	GRCh38
NC_000015.9:g.42693961C>G , CM000677.1:g.42693961C>G	GRCh37
NC_000015.8:g.40481253C>G	NCBI36
NG_008660.1:g.58661C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000349748.8:c.1333C>G	ENSP00000183936.4:p.Arg445Gly
ENST00000357568.8:c.1477C>G	ENSP00000350181.3:p.Arg493Gly
ENST00000397163.8:c.1477C>G MANE Select	ENSP00000380349.3:p.Arg493Gly
ENST00000466369.5:n.1986C>G
ENST00000483208.5:n.1708C>G
ENST00000495723.1:n.1708C>G
ENST00000549793.5:n.1708C>G
ENST00000638141.2:n.1348C>G
ENST00000673705.1:c.309+2111C>G	ENSP00000501021.1:n.309+2111C>G
ENST00000318023.11:c.1333C>G	ENSP00000326281.8:p.Arg445Gly
ENST00000349748.7:c.1333C>G	ENSP00000183936.4:p.Arg445Gly
ENST00000357568.7:c.1477C>G	ENSP00000350181.3:p.Arg493Gly
ENST00000397163.7:c.1477C>G	ENSP00000380349.3:p.Arg493Gly
NM_000070.2:c.1477C>G	NP_000061.1:p.Arg493Gly
NM_024344.1:c.1477C>G	NP_077320.1:p.Arg493Gly
NM_173087.1:c.1333C>G	NP_775110.1:p.Arg445Gly
NM_000070.3:c.1477C>G MANE Select	NP_000061.1:p.Arg493Gly
NM_024344.2:c.1477C>G	NP_077320.1:p.Arg493Gly
NM_173087.2:c.1333C>G	NP_775110.1:p.Arg445Gly