Canonical Allele Identifier: CA220341

Gene: CAPN3

Linked Data

• ClinVar Variation Id: 92405
• ClinVar RCV Id: RCV000280277 ; RCV000790779 ; RCV002271401 ; RCV002498373 ; RCV003474672
• dbSNP Id: rs201736037
• ExAC: 15:42693919 A / G
• gnomAD v2: 15-42693919-A-G
• gnomAD v3: 15-42401721-A-G
• gnomAD v4: 15-42401721-A-G
• MyVariant Identifiers: chr15:g.42693919A>G (hg19) ; chr15:g.42401721A>G (hg38)
• PubMed: PMID:10330340 ; PMID:11166169 ; PMID:11371436 ; PMID:18055493 ; PMID:18563459 ; PMID:20694146 ; PMID:27055500 ; PMID:27066573

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.42401721A>G , CM000677.2:g.42401721A>G	GRCh38
NC_000015.9:g.42693919A>G , CM000677.1:g.42693919A>G	GRCh37
NC_000015.8:g.40481211A>G	NCBI36
NG_008660.1:g.58619A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000349748.8:c.1291A>G	ENSP00000183936.4:p.Ser431Gly
ENST00000357568.8:c.1435A>G	ENSP00000350181.3:p.Ser479Gly
ENST00000397163.8:c.1435A>G MANE Select	ENSP00000380349.3:p.Ser479Gly
ENST00000466369.5:n.1944A>G
ENST00000483208.5:n.1666A>G
ENST00000495723.1:n.1666A>G
ENST00000549793.5:n.1666A>G
ENST00000638141.2:n.1306A>G
ENST00000673705.1:c.309+2069A>G	ENSP00000501021.1:n.309+2069A>G
ENST00000318023.11:c.1291A>G	ENSP00000326281.8:p.Ser431Gly
ENST00000349748.7:c.1291A>G	ENSP00000183936.4:p.Ser431Gly
ENST00000357568.7:c.1435A>G	ENSP00000350181.3:p.Ser479Gly
ENST00000397163.7:c.1435A>G	ENSP00000380349.3:p.Ser479Gly
NM_000070.2:c.1435A>G	NP_000061.1:p.Ser479Gly
NM_024344.1:c.1435A>G	NP_077320.1:p.Ser479Gly
NM_173087.1:c.1291A>G	NP_775110.1:p.Ser431Gly
NM_000070.3:c.1435A>G MANE Select	NP_000061.1:p.Ser479Gly
NM_024344.2:c.1435A>G	NP_077320.1:p.Ser479Gly
NM_173087.2:c.1291A>G	NP_775110.1:p.Ser431Gly