Canonical Allele Identifier: CA2172712051

Gene: CAPN3

Linked Data

• ClinVar Variation Id: 2786307
• ClinVar RCV Id: RCV003631437
• dbSNP Id: rs1566977034

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.42392626T>C , CM000677.2:g.42392626T>C	GRCh38
NC_000015.9:g.42684824T>C , CM000677.1:g.42684824T>C	GRCh37
NC_000015.8:g.40472116T>C	NCBI36
NG_008660.1:g.49524T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000349748.8:c.802-13T>C	ENSP00000183936.4:n.802-13T>C
ENST00000357568.8:c.946-13T>C	ENSP00000350181.3:n.946-13T>C
ENST00000397163.8:c.946-13T>C MANE Select	ENSP00000380349.3:n.946-13T>C
ENST00000466369.5:n.1455-13T>C
ENST00000483208.5:n.1177-13T>C
ENST00000495723.1:n.1177-13T>C
ENST00000549793.5:n.1177-13T>C
ENST00000638141.2:n.817-13T>C
ENST00000673705.1:c.71-4174T>C	ENSP00000501021.1:n.71-4174T>C
ENST00000318023.11:c.802-13T>C	ENSP00000326281.8:n.802-13T>C
ENST00000349748.7:c.802-13T>C	ENSP00000183936.4:n.802-13T>C
ENST00000357568.7:c.946-13T>C	ENSP00000350181.3:n.946-13T>C
ENST00000397163.7:c.946-13T>C	ENSP00000380349.3:n.946-13T>C
NM_000070.2:c.946-13T>C	NP_000061.1:n.946-13T>C
NM_024344.1:c.946-13T>C	NP_077320.1:n.946-13T>C
NM_173087.1:c.802-13T>C	NP_775110.1:n.802-13T>C
NM_000070.3:c.946-13T>C MANE Select	NP_000061.1:n.946-13T>C
NM_024344.2:c.946-13T>C	NP_077320.1:n.946-13T>C
NM_173087.2:c.802-13T>C	NP_775110.1:n.802-13T>C