Canonical Allele Identifier: CA489881121

Gene: CAPN3

Linked Data

• ClinVar Variation Id: 1984223
• ClinVar RCV Id: RCV002775387
• dbSNP Id: rs1356412241
• gnomAD v2: 15-42694002-C-A
• gnomAD v4: 15-42401804-C-A
• MyVariant Identifiers: chr15:g.42694002C>A (hg19) ; chr15:g.42401804C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.42401804C>A , CM000677.2:g.42401804C>A	GRCh38
NC_000015.9:g.42694002C>A , CM000677.1:g.42694002C>A	GRCh37
NC_000015.8:g.40481294C>A	NCBI36
NG_008660.1:g.58702C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000349748.8:c.1374C>A	ENSP00000183936.4:p.Ile458=
ENST00000357568.8:c.1518C>A	ENSP00000350181.3:p.Ile506=
ENST00000397163.8:c.1518C>A MANE Select	ENSP00000380349.3:p.Ile506=
ENST00000466369.5:n.2027C>A
ENST00000483208.5:n.1749C>A
ENST00000495723.1:n.1749C>A
ENST00000549793.5:n.1749C>A
ENST00000638141.2:n.1389C>A
ENST00000673705.1:c.309+2152C>A	ENSP00000501021.1:n.309+2152C>A
ENST00000318023.11:c.1374C>A	ENSP00000326281.8:p.Ile458=
ENST00000349748.7:c.1374C>A	ENSP00000183936.4:p.Ile458=
ENST00000357568.7:c.1518C>A	ENSP00000350181.3:p.Ile506=
ENST00000397163.7:c.1518C>A	ENSP00000380349.3:p.Ile506=
NM_000070.2:c.1518C>A	NP_000061.1:p.Ile506=
NM_024344.1:c.1518C>A	NP_077320.1:p.Ile506=
NM_173087.1:c.1374C>A	NP_775110.1:p.Ile458=
NM_000070.3:c.1518C>A MANE Select	NP_000061.1:p.Ile506=
NM_024344.2:c.1518C>A	NP_077320.1:p.Ile506=
NM_173087.2:c.1374C>A	NP_775110.1:p.Ile458=