Canonical Allele Identifier: CA7511354

Gene: CAPN3

Linked Data

• ClinVar Variation Id: 536520
• ClinVar RCV Id: RCV000645005
• dbSNP Id: rs371148431
• ExAC: 15:42693894 C / T
• gnomAD v2: 15-42693894-C-T
• gnomAD v3: 15-42401696-C-T
• gnomAD v4: 15-42401696-C-T
• MyVariant Identifiers: chr15:g.42693894C>T (hg19) ; chr15:g.42401696C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.42401696C>T , CM000677.2:g.42401696C>T	GRCh38
NC_000015.9:g.42693894C>T , CM000677.1:g.42693894C>T	GRCh37
NC_000015.8:g.40481186C>T	NCBI36
NG_008660.1:g.58594C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000349748.8:c.1266C>T	ENSP00000183936.4:p.Asp422=
ENST00000357568.8:c.1410C>T	ENSP00000350181.3:p.Asp470=
ENST00000397163.8:c.1410C>T MANE Select	ENSP00000380349.3:p.Asp470=
ENST00000466369.5:n.1919C>T
ENST00000483208.5:n.1641C>T
ENST00000495723.1:n.1641C>T
ENST00000549793.5:n.1641C>T
ENST00000638141.2:n.1281C>T
ENST00000673705.1:c.309+2044C>T	ENSP00000501021.1:n.309+2044C>T
ENST00000318023.11:c.1266C>T	ENSP00000326281.8:p.Asp422=
ENST00000349748.7:c.1266C>T	ENSP00000183936.4:p.Asp422=
ENST00000357568.7:c.1410C>T	ENSP00000350181.3:p.Asp470=
ENST00000397163.7:c.1410C>T	ENSP00000380349.3:p.Asp470=
NM_000070.2:c.1410C>T	NP_000061.1:p.Asp470=
NM_024344.1:c.1410C>T	NP_077320.1:p.Asp470=
NM_173087.1:c.1266C>T	NP_775110.1:p.Asp422=
NM_000070.3:c.1410C>T MANE Select	NP_000061.1:p.Asp470=
NM_024344.2:c.1410C>T	NP_077320.1:p.Asp470=
NM_173087.2:c.1266C>T	NP_775110.1:p.Asp422=