Canonical Allele Identifier: CA347510

Gene: CAPN3

Linked Data

• ClinVar Variation Id: 217157
• ClinVar RCV Id: RCV000201080 ; RCV003462349
• dbSNP Id: rs863224964
• gnomAD v2: 15-42679950-G-A
• gnomAD v3: 15-42387752-G-A
• gnomAD v4: 15-42387752-G-A
• MyVariant Identifiers: chr15:g.42679950G>A (hg19) ; chr15:g.42387752G>A (hg38)
• PubMed: PMID:16650086 ; PMID:18055493

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.42387752G>A , CM000677.2:g.42387752G>A	GRCh38
NC_000015.9:g.42679950G>A , CM000677.1:g.42679950G>A	GRCh37
NC_000015.8:g.40467242G>A	NCBI36
NG_008660.1:g.44650G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000349748.8:c.499-1G>A	ENSP00000183936.4:n.499-1G>A
ENST00000357568.8:c.499-1G>A	ENSP00000350181.3:n.499-1G>A
ENST00000397163.8:c.499-1G>A MANE Select	ENSP00000380349.3:n.499-1G>A
ENST00000466369.5:n.1008-1G>A
ENST00000483208.5:n.730-1G>A
ENST00000495723.1:n.730-1G>A
ENST00000549793.5:n.730-1G>A
ENST00000638141.2:n.514-1G>A
ENST00000673705.1:c.70+3200G>A	ENSP00000501021.1:n.70+3200G>A
ENST00000318023.11:c.499-1G>A	ENSP00000326281.8:n.499-1G>A
ENST00000349748.7:c.499-1G>A	ENSP00000183936.4:n.499-1G>A
ENST00000357568.7:c.499-1G>A	ENSP00000350181.3:n.499-1G>A
ENST00000397163.7:c.499-1G>A	ENSP00000380349.3:n.499-1G>A
NM_000070.2:c.499-1G>A	NP_000061.1:n.499-1G>A
NM_024344.1:c.499-1G>A	NP_077320.1:n.499-1G>A
NM_173087.1:c.499-1G>A	NP_775110.1:n.499-1G>A
NM_000070.3:c.499-1G>A MANE Select	NP_000061.1:n.499-1G>A
NM_024344.2:c.499-1G>A	NP_077320.1:n.499-1G>A
NM_173087.2:c.499-1G>A	NP_775110.1:n.499-1G>A