Canonical Allele Identifier: CA10605072

Gene: CAPN3

Linked Data

• ClinVar Variation Id: 285311
• ClinVar RCV Id: RCV000367427 ; RCV001060205
• dbSNP Id: rs886043070
• gnomAD v2: 15-42652064-G-T
• gnomAD v4: 15-42359866-G-T
• MyVariant Identifiers: chr15:g.42652064G>T (hg19) ; chr15:g.42359866G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.42359866G>T , CM000677.2:g.42359866G>T	GRCh38
NC_000015.9:g.42652064G>T , CM000677.1:g.42652064G>T	GRCh37
NC_000015.8:g.40439356G>T	NCBI36
NG_008660.1:g.16764G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000349748.8:c.61G>T	ENSP00000183936.4:p.Gly21Trp
ENST00000357568.8:c.61G>T	ENSP00000350181.3:p.Gly21Trp
ENST00000397163.8:c.61G>T MANE Select	ENSP00000380349.3:p.Gly21Trp
ENST00000466369.5:n.540+5413G>T
ENST00000483208.5:n.540+5413G>T
ENST00000495723.1:n.540+5413G>T
ENST00000549793.5:n.540+5413G>T
ENST00000318023.11:c.61G>T	ENSP00000326281.8:p.Gly21Trp
ENST00000349748.7:c.61G>T	ENSP00000183936.4:p.Gly21Trp
ENST00000357568.7:c.61G>T	ENSP00000350181.3:p.Gly21Trp
ENST00000397163.7:c.61G>T	ENSP00000380349.3:p.Gly21Trp
NM_000070.2:c.61G>T	NP_000061.1:p.Gly21Trp
NM_024344.1:c.61G>T	NP_077320.1:p.Gly21Trp
NM_173087.1:c.61G>T	NP_775110.1:p.Gly21Trp
NM_000070.3:c.61G>T MANE Select	NP_000061.1:p.Gly21Trp
NM_024344.2:c.61G>T	NP_077320.1:p.Gly21Trp
NM_173087.2:c.61G>T	NP_775110.1:p.Gly21Trp