Canonical Allele Identifier: CA489878957

Gene: CAPN3

Linked Data

• ClinVar Variation Id: 502590
• ClinVar RCV Id: RCV000591199 ; RCV001278221
• dbSNP Id: rs1555420768
• gnomAD v4: 15-42390015-A-G
• MyVariant Identifiers: chr15:g.42682213A>G (hg19) ; chr15:g.42390015A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.42390015A>G , CM000677.2:g.42390015A>G	GRCh38
NC_000015.9:g.42682213A>G , CM000677.1:g.42682213A>G	GRCh37
NC_000015.8:g.40469505A>G	NCBI36
NG_008660.1:g.46913A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000349748.8:c.801+919A>G	ENSP00000183936.4:n.801+919A>G
ENST00000357568.8:c.864A>G	ENSP00000350181.3:p.Ala288=
ENST00000397163.8:c.864A>G MANE Select	ENSP00000380349.3:p.Ala288=
ENST00000466369.5:n.1373A>G
ENST00000483208.5:n.1095A>G
ENST00000495723.1:n.1095A>G
ENST00000549793.5:n.1095A>G
ENST00000638141.2:n.816+919A>G
ENST00000673705.1:c.70+5463A>G	ENSP00000501021.1:n.70+5463A>G
ENST00000318023.11:c.801+919A>G	ENSP00000326281.8:n.801+919A>G
ENST00000349748.7:c.801+919A>G	ENSP00000183936.4:n.801+919A>G
ENST00000357568.7:c.864A>G	ENSP00000350181.3:p.Ala288=
ENST00000397163.7:c.864A>G	ENSP00000380349.3:p.Ala288=
NM_000070.2:c.864A>G	NP_000061.1:p.Ala288=
NM_024344.1:c.864A>G	NP_077320.1:p.Ala288=
NM_173087.1:c.801+919A>G	NP_775110.1:n.801+919A>G
NM_000070.3:c.864A>G MANE Select	NP_000061.1:p.Ala288=
NM_024344.2:c.864A>G	NP_077320.1:p.Ala288=
NM_173087.2:c.801+919A>G	NP_775110.1:n.801+919A>G