Canonical Allele Identifier: CA969138350

Gene: CAPN3

Linked Data

• dbSNP Id: rs2053471728
• gnomAD v3: 15-42388752-T-A
• gnomAD v4: 15-42388752-T-A

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.42388752T>A , CM000677.2:g.42388752T>A	GRCh38
NC_000015.9:g.42680950T>A , CM000677.1:g.42680950T>A	GRCh37
NC_000015.8:g.40468242T>A	NCBI36
NG_008660.1:g.45650T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000349748.8:c.633-176T>A	ENSP00000183936.4:n.633-176T>A
ENST00000357568.8:c.633-176T>A	ENSP00000350181.3:n.633-176T>A
ENST00000397163.8:c.633-176T>A MANE Select	ENSP00000380349.3:n.633-176T>A
ENST00000466369.5:n.1142-176T>A
ENST00000483208.5:n.864-176T>A
ENST00000495723.1:n.864-176T>A
ENST00000549793.5:n.864-176T>A
ENST00000638141.2:n.648-176T>A
ENST00000673705.1:c.70+4200T>A	ENSP00000501021.1:n.70+4200T>A
ENST00000318023.11:c.633-176T>A	ENSP00000326281.8:n.633-176T>A
ENST00000349748.7:c.633-176T>A	ENSP00000183936.4:n.633-176T>A
ENST00000357568.7:c.633-176T>A	ENSP00000350181.3:n.633-176T>A
ENST00000397163.7:c.633-176T>A	ENSP00000380349.3:n.633-176T>A
NM_000070.2:c.633-176T>A	NP_000061.1:n.633-176T>A
NM_024344.1:c.633-176T>A	NP_077320.1:n.633-176T>A
NM_173087.1:c.633-176T>A	NP_775110.1:n.633-176T>A
NM_000070.3:c.633-176T>A MANE Select	NP_000061.1:n.633-176T>A
NM_024344.2:c.633-176T>A	NP_077320.1:n.633-176T>A
NM_173087.2:c.633-176T>A	NP_775110.1:n.633-176T>A