Canonical Allele Identifier: CA391998163

Gene: CAPN3

Linked Data

• ClinVar Variation Id: 835867
• ClinVar RCV Id: RCV001036859
• dbSNP Id: rs2053479765
• MyVariant Identifiers: chr15:g.42681181G>C (hg19) ; chr15:g.42388983G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.42388983G>C , CM000677.2:g.42388983G>C	GRCh38
NC_000015.9:g.42681181G>C , CM000677.1:g.42681181G>C	GRCh37
NC_000015.8:g.40468473G>C	NCBI36
NG_008660.1:g.45881G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000349748.8:c.688G>C	ENSP00000183936.4:p.Asp230His
ENST00000357568.8:c.688G>C	ENSP00000350181.3:p.Asp230His
ENST00000397163.8:c.688G>C MANE Select	ENSP00000380349.3:p.Asp230His
ENST00000466369.5:n.1197G>C
ENST00000483208.5:n.919G>C
ENST00000495723.1:n.919G>C
ENST00000549793.5:n.919G>C
ENST00000638141.2:n.703G>C
ENST00000673705.1:c.70+4431G>C	ENSP00000501021.1:n.70+4431G>C
ENST00000318023.11:c.688G>C	ENSP00000326281.8:p.Asp230His
ENST00000349748.7:c.688G>C	ENSP00000183936.4:p.Asp230His
ENST00000357568.7:c.688G>C	ENSP00000350181.3:p.Asp230His
ENST00000397163.7:c.688G>C	ENSP00000380349.3:p.Asp230His
NM_000070.2:c.688G>C	NP_000061.1:p.Asp230His
NM_024344.1:c.688G>C	NP_077320.1:p.Asp230His
NM_173087.1:c.688G>C	NP_775110.1:p.Asp230His
NM_000070.3:c.688G>C MANE Select	NP_000061.1:p.Asp230His
NM_024344.2:c.688G>C	NP_077320.1:p.Asp230His
NM_173087.2:c.688G>C	NP_775110.1:p.Asp230His