Canonical Allele Identifier: CA2172711939

Gene: CAPN3

Linked Data

• dbSNP Id: rs2053579833

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.42392409A>C , CM000677.2:g.42392409A>C	GRCh38
NC_000015.9:g.42684607A>C , CM000677.1:g.42684607A>C	GRCh37
NC_000015.8:g.40471899A>C	NCBI36
NG_008660.1:g.49307A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000349748.8:c.802-230A>C	ENSP00000183936.4:n.802-230A>C
ENST00000357568.8:c.946-230A>C	ENSP00000350181.3:n.946-230A>C
ENST00000397163.8:c.946-230A>C MANE Select	ENSP00000380349.3:n.946-230A>C
ENST00000466369.5:n.1455-230A>C
ENST00000483208.5:n.1177-230A>C
ENST00000495723.1:n.1177-230A>C
ENST00000549793.5:n.1177-230A>C
ENST00000638141.2:n.817-230A>C
ENST00000673705.1:c.71-4391A>C	ENSP00000501021.1:n.71-4391A>C
ENST00000318023.11:c.802-230A>C	ENSP00000326281.8:n.802-230A>C
ENST00000349748.7:c.802-230A>C	ENSP00000183936.4:n.802-230A>C
ENST00000357568.7:c.946-230A>C	ENSP00000350181.3:n.946-230A>C
ENST00000397163.7:c.946-230A>C	ENSP00000380349.3:n.946-230A>C
NM_000070.2:c.946-230A>C	NP_000061.1:n.946-230A>C
NM_024344.1:c.946-230A>C	NP_077320.1:n.946-230A>C
NM_173087.1:c.802-230A>C	NP_775110.1:n.802-230A>C
NM_000070.3:c.946-230A>C MANE Select	NP_000061.1:n.946-230A>C
NM_024344.2:c.946-230A>C	NP_077320.1:n.946-230A>C
NM_173087.2:c.802-230A>C	NP_775110.1:n.802-230A>C