Canonical Allele Identifier: CA347588

Gene: CAPN3

Linked Data

• ClinVar Variation Id: 217152
• ClinVar RCV Id: RCV000201202 ; RCV000725109 ; RCV001814107 ; RCV002500625 ; RCV003474972
• dbSNP Id: rs863224959
• gnomAD v2: 15-42695169-C-T
• gnomAD v3: 15-42402971-C-T
• gnomAD v4: 15-42402971-C-T
• MyVariant Identifiers: chr15:g.42695169C>T (hg19) ; chr15:g.42402971C>T (hg38)
• PubMed: PMID:9150160 ; PMID:10330340 ; PMID:12461690 ; PMID:15221789 ; PMID:23891399

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.42402971C>T , CM000677.2:g.42402971C>T	GRCh38
NC_000015.9:g.42695169C>T , CM000677.1:g.42695169C>T	GRCh37
NC_000015.8:g.40482461C>T	NCBI36
NG_008660.1:g.59869C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000349748.8:c.1570C>T	ENSP00000183936.4:p.Arg524Trp
ENST00000357568.8:c.1714C>T	ENSP00000350181.3:p.Arg572Trp
ENST00000397163.8:c.1714C>T MANE Select	ENSP00000380349.3:p.Arg572Trp
ENST00000466369.5:n.2223C>T
ENST00000483208.5:n.2603C>T
ENST00000495723.1:n.2603C>T
ENST00000549793.5:n.1945C>T
ENST00000638141.2:n.1585C>T
ENST00000673646.1:c.178C>T	ENSP00000501007.1:p.Arg60Trp
ENST00000673705.1:c.309+3319C>T	ENSP00000501021.1:n.309+3319C>T
ENST00000673813.1:n.580+56C>T
ENST00000318023.11:c.1570C>T	ENSP00000326281.8:p.Arg524Trp
ENST00000349748.7:c.1570C>T	ENSP00000183936.4:p.Arg524Trp
ENST00000357568.7:c.1714C>T	ENSP00000350181.3:p.Arg572Trp
ENST00000397163.7:c.1714C>T	ENSP00000380349.3:p.Arg572Trp
ENST00000397200.8:c.178C>T	ENSP00000380384.4:p.Arg60Trp
ENST00000567071.5:c.173C>T
ENST00000569827.5:c.178C>T	ENSP00000454379.1:p.Arg60Trp
NM_000070.2:c.1714C>T	NP_000061.1:p.Arg572Trp
NM_024344.1:c.1714C>T	NP_077320.1:p.Arg572Trp
NM_173087.1:c.1570C>T	NP_775110.1:p.Arg524Trp
NM_173088.1:c.178C>T	NP_775111.1:p.Arg60Trp
NM_000070.3:c.1714C>T MANE Select	NP_000061.1:p.Arg572Trp
NM_024344.2:c.1714C>T	NP_077320.1:p.Arg572Trp
NM_173087.2:c.1570C>T	NP_775110.1:p.Arg524Trp
NM_173088.2:c.178C>T	NP_775111.1:p.Arg60Trp