Canonical Allele Identifier: CA2172710214

Gene: CAPN3

Linked Data

• dbSNP Id: rs2053473617
• gnomAD v4: 15-42388831-C-G

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.42388831C>G , CM000677.2:g.42388831C>G	GRCh38
NC_000015.9:g.42681029C>G , CM000677.1:g.42681029C>G	GRCh37
NC_000015.8:g.40468321C>G	NCBI36
NG_008660.1:g.45729C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000349748.8:c.633-97C>G	ENSP00000183936.4:n.633-97C>G
ENST00000357568.8:c.633-97C>G	ENSP00000350181.3:n.633-97C>G
ENST00000397163.8:c.633-97C>G MANE Select	ENSP00000380349.3:n.633-97C>G
ENST00000466369.5:n.1142-97C>G
ENST00000483208.5:n.864-97C>G
ENST00000495723.1:n.864-97C>G
ENST00000549793.5:n.864-97C>G
ENST00000638141.2:n.648-97C>G
ENST00000673705.1:c.70+4279C>G	ENSP00000501021.1:n.70+4279C>G
ENST00000318023.11:c.633-97C>G	ENSP00000326281.8:n.633-97C>G
ENST00000349748.7:c.633-97C>G	ENSP00000183936.4:n.633-97C>G
ENST00000357568.7:c.633-97C>G	ENSP00000350181.3:n.633-97C>G
ENST00000397163.7:c.633-97C>G	ENSP00000380349.3:n.633-97C>G
NM_000070.2:c.633-97C>G	NP_000061.1:n.633-97C>G
NM_024344.1:c.633-97C>G	NP_077320.1:n.633-97C>G
NM_173087.1:c.633-97C>G	NP_775110.1:n.633-97C>G
NM_000070.3:c.633-97C>G MANE Select	NP_000061.1:n.633-97C>G
NM_024344.2:c.633-97C>G	NP_077320.1:n.633-97C>G
NM_173087.2:c.633-97C>G	NP_775110.1:n.633-97C>G