Canonical Allele Identifier: CA489880380

Gene: CAPN3

Linked Data

• ClinVar Variation Id: 1912221
• ClinVar RCV Id: RCV002578781
• gnomAD v4: 15-42401670-C-T
• MyVariant Identifiers: chr15:g.42693868C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.42401670C>T , CM000677.2:g.42401670C>T	GRCh38
NC_000015.9:g.42693868C>T , CM000677.1:g.42693868C>T	GRCh37
NC_000015.8:g.40481160C>T	NCBI36
NG_008660.1:g.58568C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000349748.8:c.1240C>T	ENSP00000183936.4:p.Leu414=
ENST00000357568.8:c.1384C>T	ENSP00000350181.3:p.Leu462=
ENST00000397163.8:c.1384C>T MANE Select	ENSP00000380349.3:p.Leu462=
ENST00000466369.5:n.1893C>T
ENST00000483208.5:n.1615C>T
ENST00000495723.1:n.1615C>T
ENST00000549793.5:n.1615C>T
ENST00000638141.2:n.1255C>T
ENST00000673705.1:c.309+2018C>T	ENSP00000501021.1:n.309+2018C>T
ENST00000318023.11:c.1240C>T	ENSP00000326281.8:p.Leu414=
ENST00000349748.7:c.1240C>T	ENSP00000183936.4:p.Leu414=
ENST00000357568.7:c.1384C>T	ENSP00000350181.3:p.Leu462=
ENST00000397163.7:c.1384C>T	ENSP00000380349.3:p.Leu462=
NM_000070.2:c.1384C>T	NP_000061.1:p.Leu462=
NM_024344.1:c.1384C>T	NP_077320.1:p.Leu462=
NM_173087.1:c.1240C>T	NP_775110.1:p.Leu414=
NM_000070.3:c.1384C>T MANE Select	NP_000061.1:p.Leu462=
NM_024344.2:c.1384C>T	NP_077320.1:p.Leu462=
NM_173087.2:c.1240C>T	NP_775110.1:p.Leu414=