Canonical Allele Identifier: CA489879056

Gene: CAPN3

Linked Data

• ClinVar Variation Id: 1989428
• ClinVar RCV Id: RCV002786505
• MyVariant Identifiers: chr15:g.42684839A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.42392641A>G , CM000677.2:g.42392641A>G	GRCh38
NC_000015.9:g.42684839A>G , CM000677.1:g.42684839A>G	GRCh37
NC_000015.8:g.40472131A>G	NCBI36
NG_008660.1:g.49539A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000349748.8:c.804A>G	ENSP00000183936.4:p.Thr268=
ENST00000357568.8:c.948A>G	ENSP00000350181.3:p.Thr316=
ENST00000397163.8:c.948A>G MANE Select	ENSP00000380349.3:p.Thr316=
ENST00000466369.5:n.1457A>G
ENST00000483208.5:n.1179A>G
ENST00000495723.1:n.1179A>G
ENST00000549793.5:n.1179A>G
ENST00000638141.2:n.819A>G
ENST00000673705.1:c.71-4159A>G	ENSP00000501021.1:n.71-4159A>G
ENST00000318023.11:c.804A>G	ENSP00000326281.8:p.Thr268=
ENST00000349748.7:c.804A>G	ENSP00000183936.4:p.Thr268=
ENST00000357568.7:c.948A>G	ENSP00000350181.3:p.Thr316=
ENST00000397163.7:c.948A>G	ENSP00000380349.3:p.Thr316=
NM_000070.2:c.948A>G	NP_000061.1:p.Thr316=
NM_024344.1:c.948A>G	NP_077320.1:p.Thr316=
NM_173087.1:c.804A>G	NP_775110.1:p.Thr268=
NM_000070.3:c.948A>G MANE Select	NP_000061.1:p.Thr316=
NM_024344.2:c.948A>G	NP_077320.1:p.Thr316=
NM_173087.2:c.804A>G	NP_775110.1:p.Thr268=