Canonical Allele Identifier: CA712902894

Gene: CAPN3

Linked Data

• dbSNP Id: rs1357336017
• gnomAD v4: 15-42401859-A-G
• MyVariant Identifiers: chr15:g.42694057A>G (hg19) ; chr15:g.42401859A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.42401859A>G , CM000677.2:g.42401859A>G	GRCh38
NC_000015.9:g.42694057A>G , CM000677.1:g.42694057A>G	GRCh37
NC_000015.8:g.40481349A>G	NCBI36
NG_008660.1:g.58757A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000349748.8:c.1380+49A>G	ENSP00000183936.4:n.1380+49A>G
ENST00000357568.8:c.1524+49A>G	ENSP00000350181.3:n.1524+49A>G
ENST00000397163.8:c.1524+49A>G MANE Select	ENSP00000380349.3:n.1524+49A>G
ENST00000466369.5:n.2033+49A>G
ENST00000483208.5:n.1755+49A>G
ENST00000495723.1:n.1755+49A>G
ENST00000549793.5:n.1755+49A>G
ENST00000638141.2:n.1395+49A>G
ENST00000673705.1:c.309+2207A>G	ENSP00000501021.1:n.309+2207A>G
ENST00000318023.11:c.1380+49A>G	ENSP00000326281.8:n.1380+49A>G
ENST00000349748.7:c.1380+49A>G	ENSP00000183936.4:n.1380+49A>G
ENST00000357568.7:c.1524+49A>G	ENSP00000350181.3:n.1524+49A>G
ENST00000397163.7:c.1524+49A>G	ENSP00000380349.3:n.1524+49A>G
NM_000070.2:c.1524+49A>G	NP_000061.1:n.1524+49A>G
NM_024344.1:c.1524+49A>G	NP_077320.1:n.1524+49A>G
NM_173087.1:c.1380+49A>G	NP_775110.1:n.1380+49A>G
NM_000070.3:c.1524+49A>G MANE Select	NP_000061.1:n.1524+49A>G
NM_024344.2:c.1524+49A>G	NP_077320.1:n.1524+49A>G
NM_173087.2:c.1380+49A>G	NP_775110.1:n.1380+49A>G