Canonical Allele Identifier: CA7511243

Gene: CAPN3

Linked Data

• ClinVar Variation Id: 468639
• ClinVar RCV Id: RCV000537811 ; RCV002282221 ; RCV002491061 ; RCV003144340 ; RCV003476295
• dbSNP Id: rs767106920
• ExAC: 15:42686523 G / A
• gnomAD v2: 15-42686523-G-A
• gnomAD v4: 15-42394325-G-A
• COSMIC: COSM1372925 ; COSM1372926 ; COSM5141109 ; COSM5141110
• MyVariant Identifiers: chr15:g.42686523G>A (hg19) ; chr15:g.42394325G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.42394325G>A , CM000677.2:g.42394325G>A	GRCh38
NC_000015.9:g.42686523G>A , CM000677.1:g.42686523G>A	GRCh37
NC_000015.8:g.40473815G>A	NCBI36
NG_008660.1:g.51223G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000349748.8:c.955G>A	ENSP00000183936.4:p.Gly319Ser
ENST00000357568.8:c.1099G>A	ENSP00000350181.3:p.Gly367Ser
ENST00000397163.8:c.1099G>A MANE Select	ENSP00000380349.3:p.Gly367Ser
ENST00000466369.5:n.1608G>A
ENST00000483208.5:n.1330G>A
ENST00000495723.1:n.1330G>A
ENST00000549793.5:n.1330G>A
ENST00000638141.2:n.970G>A
ENST00000673658.1:n.83G>A
ENST00000673705.1:c.71-2475G>A	ENSP00000501021.1:n.71-2475G>A
ENST00000318023.11:c.955G>A	ENSP00000326281.8:p.Gly319Ser
ENST00000349748.7:c.955G>A	ENSP00000183936.4:p.Gly319Ser
ENST00000357568.7:c.1099G>A	ENSP00000350181.3:p.Gly367Ser
ENST00000397163.7:c.1099G>A	ENSP00000380349.3:p.Gly367Ser
NM_000070.2:c.1099G>A	NP_000061.1:p.Gly367Ser
NM_024344.1:c.1099G>A	NP_077320.1:p.Gly367Ser
NM_173087.1:c.955G>A	NP_775110.1:p.Gly319Ser
NM_000070.3:c.1099G>A MANE Select	NP_000061.1:p.Gly367Ser
NM_024344.2:c.1099G>A	NP_077320.1:p.Gly367Ser
NM_173087.2:c.955G>A	NP_775110.1:p.Gly319Ser