Canonical Allele Identifier: CA7511300

Gene: CAPN3

Linked Data

• ClinVar Variation Id: 281505
• ClinVar RCV Id: RCV000340100 ; RCV000724905 ; RCV001814141 ; RCV002509343 ; RCV002502096 ; RCV003475890
• dbSNP Id: rs200646556
• ExAC: 15:42691746 C / T
• gnomAD v2: 15-42691746-C-T
• gnomAD v3: 15-42399548-C-T
• gnomAD v4: 15-42399548-C-T
• COSMIC: COSM961722 ; COSM1587839 ; COSM1587840
• MyVariant Identifiers: chr15:g.42691746C>T (hg19) ; chr15:g.42399548C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.42399548C>T , CM000677.2:g.42399548C>T	GRCh38
NC_000015.9:g.42691746C>T , CM000677.1:g.42691746C>T	GRCh37
NC_000015.8:g.40479038C>T	NCBI36
NG_008660.1:g.56446C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000349748.8:c.1106C>T	ENSP00000183936.4:p.Thr369Met
ENST00000357568.8:c.1250C>T	ENSP00000350181.3:p.Thr417Met
ENST00000397163.8:c.1250C>T MANE Select	ENSP00000380349.3:p.Thr417Met
ENST00000466369.5:n.1759C>T
ENST00000483208.5:n.1481C>T
ENST00000495723.1:n.1481C>T
ENST00000549793.5:n.1481C>T
ENST00000638141.2:n.1121C>T
ENST00000673658.1:n.234C>T
ENST00000673705.1:c.205C>T	ENSP00000501021.1:p.Arg69Trp
ENST00000318023.11:c.1106C>T	ENSP00000326281.8:p.Thr369Met
ENST00000349748.7:c.1106C>T	ENSP00000183936.4:p.Thr369Met
ENST00000357568.7:c.1250C>T	ENSP00000350181.3:p.Thr417Met
ENST00000397163.7:c.1250C>T	ENSP00000380349.3:p.Thr417Met
NM_000070.2:c.1250C>T	NP_000061.1:p.Thr417Met
NM_024344.1:c.1250C>T	NP_077320.1:p.Thr417Met
NM_173087.1:c.1106C>T	NP_775110.1:p.Thr369Met
NM_000070.3:c.1250C>T MANE Select	NP_000061.1:p.Thr417Met
NM_024344.2:c.1250C>T	NP_077320.1:p.Thr417Met
NM_173087.2:c.1106C>T	NP_775110.1:p.Thr369Met