Canonical Allele Identifier: CA7511092

Gene: CAPN3

Linked Data

• ClinVar Variation Id: 288404
• ClinVar RCV Id: RCV000323826 ; RCV001068856 ; RCV003463771
• dbSNP Id: rs773001194
• ExAC: 15:42681142 G / A
• gnomAD v2: 15-42681142-G-A
• gnomAD v3: 15-42388944-G-A
• gnomAD v4: 15-42388944-G-A
• COSMIC: COSM961718 ; COSM1587845 ; COSM1587846
• MyVariant Identifiers: chr15:g.42681142G>A (hg19) ; chr15:g.42388944G>A (hg38)
• PubMed: PMID:23891399

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.42388944G>A , CM000677.2:g.42388944G>A	GRCh38
NC_000015.9:g.42681142G>A , CM000677.1:g.42681142G>A	GRCh37
NC_000015.8:g.40468434G>A	NCBI36
NG_008660.1:g.45842G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000349748.8:c.649G>A	ENSP00000183936.4:p.Glu217Lys
ENST00000357568.8:c.649G>A	ENSP00000350181.3:p.Glu217Lys
ENST00000397163.8:c.649G>A MANE Select	ENSP00000380349.3:p.Glu217Lys
ENST00000466369.5:n.1158G>A
ENST00000483208.5:n.880G>A
ENST00000495723.1:n.880G>A
ENST00000549793.5:n.880G>A
ENST00000638141.2:n.664G>A
ENST00000673705.1:c.70+4392G>A	ENSP00000501021.1:n.70+4392G>A
ENST00000318023.11:c.649G>A	ENSP00000326281.8:p.Glu217Lys
ENST00000349748.7:c.649G>A	ENSP00000183936.4:p.Glu217Lys
ENST00000357568.7:c.649G>A	ENSP00000350181.3:p.Glu217Lys
ENST00000397163.7:c.649G>A	ENSP00000380349.3:p.Glu217Lys
NM_000070.2:c.649G>A	NP_000061.1:p.Glu217Lys
NM_024344.1:c.649G>A	NP_077320.1:p.Glu217Lys
NM_173087.1:c.649G>A	NP_775110.1:p.Glu217Lys
NM_000070.3:c.649G>A MANE Select	NP_000061.1:p.Glu217Lys
NM_024344.2:c.649G>A	NP_077320.1:p.Glu217Lys
NM_173087.2:c.649G>A	NP_775110.1:p.Glu217Lys