Canonical Allele Identifier: CA347487

Gene: CAPN3

Linked Data

• ClinVar Variation Id: 217146
• ClinVar RCV Id: RCV000201038 ; RCV000516175 ; RCV003474967 ; RCV003225933
• dbSNP Id: rs374665929
• ExAC: 15:42691681 A / G
• gnomAD v2: 15-42691681-A-G
• gnomAD v3: 15-42399483-A-G
• gnomAD v4: 15-42399483-A-G
• MyVariant Identifiers: chr15:g.42691681A>G (hg19) ; chr15:g.42399483A>G (hg38)
• PubMed: PMID:10330340 ; PMID:11525884 ; PMID:12461690 ; PMID:22158424

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.42399483A>G , CM000677.2:g.42399483A>G	GRCh38
NC_000015.9:g.42691681A>G , CM000677.1:g.42691681A>G	GRCh37
NC_000015.8:g.40478973A>G	NCBI36
NG_008660.1:g.56381A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000349748.8:c.1050-9A>G	ENSP00000183936.4:n.1050-9A>G
ENST00000357568.8:c.1194-9A>G	ENSP00000350181.3:n.1194-9A>G
ENST00000397163.8:c.1194-9A>G MANE Select	ENSP00000380349.3:n.1194-9A>G
ENST00000466369.5:n.1703-9A>G
ENST00000483208.5:n.1425-9A>G
ENST00000495723.1:n.1425-9A>G
ENST00000549793.5:n.1425-9A>G
ENST00000638141.2:n.1065-9A>G
ENST00000673658.1:n.178-9A>G
ENST00000673705.1:c.149-9A>G	ENSP00000501021.1:n.149-9A>G
ENST00000318023.11:c.1050-9A>G	ENSP00000326281.8:n.1050-9A>G
ENST00000349748.7:c.1050-9A>G	ENSP00000183936.4:n.1050-9A>G
ENST00000357568.7:c.1194-9A>G	ENSP00000350181.3:n.1194-9A>G
ENST00000397163.7:c.1194-9A>G	ENSP00000380349.3:n.1194-9A>G
NM_000070.2:c.1194-9A>G	NP_000061.1:n.1194-9A>G
NM_024344.1:c.1194-9A>G	NP_077320.1:n.1194-9A>G
NM_173087.1:c.1050-9A>G	NP_775110.1:n.1050-9A>G
NM_000070.3:c.1194-9A>G MANE Select	NP_000061.1:n.1194-9A>G
NM_024344.2:c.1194-9A>G	NP_077320.1:n.1194-9A>G
NM_173087.2:c.1050-9A>G	NP_775110.1:n.1050-9A>G