Canonical Allele Identifier: CA7511452

Gene: CAPN3

Linked Data

• ClinVar Variation Id: 2742627
• ClinVar RCV Id: RCV003516748
• dbSNP Id: rs765633729
• ExAC: 15:42695093 C / G
• gnomAD v2: 15-42695093-C-G
• gnomAD v3: 15-42402895-C-G
• gnomAD v4: 15-42402895-C-G
• MyVariant Identifiers: chr15:g.42695093C>G (hg19) ; chr15:g.42402895C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.42402895C>G , CM000677.2:g.42402895C>G	GRCh38
NC_000015.9:g.42695093C>G , CM000677.1:g.42695093C>G	GRCh37
NC_000015.8:g.40482385C>G	NCBI36
NG_008660.1:g.59793C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000349748.8:c.1494C>G	ENSP00000183936.4:p.Arg498=
ENST00000357568.8:c.1638C>G	ENSP00000350181.3:p.Arg546=
ENST00000397163.8:c.1638C>G MANE Select	ENSP00000380349.3:p.Arg546=
ENST00000466369.5:n.2147C>G
ENST00000483208.5:n.2527C>G
ENST00000495723.1:n.2527C>G
ENST00000549793.5:n.1869C>G
ENST00000638141.2:n.1509C>G
ENST00000673646.1:c.102C>G	ENSP00000501007.1:p.Arg34=
ENST00000673705.1:c.309+3243C>G	ENSP00000501021.1:n.309+3243C>G
ENST00000673813.1:n.560C>G
ENST00000318023.11:c.1494C>G	ENSP00000326281.8:p.Arg498=
ENST00000349748.7:c.1494C>G	ENSP00000183936.4:p.Arg498=
ENST00000357568.7:c.1638C>G	ENSP00000350181.3:p.Arg546=
ENST00000397163.7:c.1638C>G	ENSP00000380349.3:p.Arg546=
ENST00000397200.8:c.102C>G	ENSP00000380384.4:p.Arg34=
ENST00000567071.5:c.97C>G
ENST00000569827.5:c.102C>G	ENSP00000454379.1:p.Arg34=
NM_000070.2:c.1638C>G	NP_000061.1:p.Arg546=
NM_024344.1:c.1638C>G	NP_077320.1:p.Arg546=
NM_173087.1:c.1494C>G	NP_775110.1:p.Arg498=
NM_173088.1:c.102C>G	NP_775111.1:p.Arg34=
NM_000070.3:c.1638C>G MANE Select	NP_000061.1:p.Arg546=
NM_024344.2:c.1638C>G	NP_077320.1:p.Arg546=
NM_173087.2:c.1494C>G	NP_775110.1:p.Arg498=
NM_173088.2:c.102C>G	NP_775111.1:p.Arg34=