Canonical Allele Identifier: CA7511367

Gene: CAPN3

Linked Data

• ClinVar Variation Id: 968561
• ClinVar RCV Id: RCV001243724 ; RCV001580576 ; RCV003145477
• dbSNP Id: rs143583537
• ExAC: 15:42693962 G / A
• gnomAD v2: 15-42693962-G-A
• gnomAD v3: 15-42401764-G-A
• gnomAD v4: 15-42401764-G-A
• MyVariant Identifiers: chr15:g.42693962G>A (hg19) ; chr15:g.42401764G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.42401764G>A , CM000677.2:g.42401764G>A	GRCh38
NC_000015.9:g.42693962G>A , CM000677.1:g.42693962G>A	GRCh37
NC_000015.8:g.40481254G>A	NCBI36
NG_008660.1:g.58662G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000349748.8:c.1334G>A	ENSP00000183936.4:p.Arg445Gln
ENST00000357568.8:c.1478G>A	ENSP00000350181.3:p.Arg493Gln
ENST00000397163.8:c.1478G>A MANE Select	ENSP00000380349.3:p.Arg493Gln
ENST00000466369.5:n.1987G>A
ENST00000483208.5:n.1709G>A
ENST00000495723.1:n.1709G>A
ENST00000549793.5:n.1709G>A
ENST00000638141.2:n.1349G>A
ENST00000673705.1:c.309+2112G>A	ENSP00000501021.1:n.309+2112G>A
ENST00000318023.11:c.1334G>A	ENSP00000326281.8:p.Arg445Gln
ENST00000349748.7:c.1334G>A	ENSP00000183936.4:p.Arg445Gln
ENST00000357568.7:c.1478G>A	ENSP00000350181.3:p.Arg493Gln
ENST00000397163.7:c.1478G>A	ENSP00000380349.3:p.Arg493Gln
NM_000070.2:c.1478G>A	NP_000061.1:p.Arg493Gln
NM_024344.1:c.1478G>A	NP_077320.1:p.Arg493Gln
NM_173087.1:c.1334G>A	NP_775110.1:p.Arg445Gln
NM_000070.3:c.1478G>A MANE Select	NP_000061.1:p.Arg493Gln
NM_024344.2:c.1478G>A	NP_077320.1:p.Arg493Gln
NM_173087.2:c.1334G>A	NP_775110.1:p.Arg445Gln