Canonical Allele Identifier: CA915946536

Gene: CAPN3

Linked Data

• ClinVar Variation Id: 794423
• ClinVar RCV Id: RCV001443637
• dbSNP Id: rs1595822560
• gnomAD v4: 15-42388920-T-C

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.42388920T>C , CM000677.2:g.42388920T>C	GRCh38
NC_000015.9:g.42681118T>C , CM000677.1:g.42681118T>C	GRCh37
NC_000015.8:g.40468410T>C	NCBI36
NG_008660.1:g.45818T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000349748.8:c.633-8T>C	ENSP00000183936.4:n.633-8T>C
ENST00000357568.8:c.633-8T>C	ENSP00000350181.3:n.633-8T>C
ENST00000397163.8:c.633-8T>C MANE Select	ENSP00000380349.3:n.633-8T>C
ENST00000466369.5:n.1142-8T>C
ENST00000483208.5:n.864-8T>C
ENST00000495723.1:n.864-8T>C
ENST00000549793.5:n.864-8T>C
ENST00000638141.2:n.648-8T>C
ENST00000673705.1:c.70+4368T>C	ENSP00000501021.1:n.70+4368T>C
ENST00000318023.11:c.633-8T>C	ENSP00000326281.8:n.633-8T>C
ENST00000349748.7:c.633-8T>C	ENSP00000183936.4:n.633-8T>C
ENST00000357568.7:c.633-8T>C	ENSP00000350181.3:n.633-8T>C
ENST00000397163.7:c.633-8T>C	ENSP00000380349.3:n.633-8T>C
NM_000070.2:c.633-8T>C	NP_000061.1:n.633-8T>C
NM_024344.1:c.633-8T>C	NP_077320.1:n.633-8T>C
NM_173087.1:c.633-8T>C	NP_775110.1:n.633-8T>C
NM_000070.3:c.633-8T>C MANE Select	NP_000061.1:n.633-8T>C
NM_024344.2:c.633-8T>C	NP_077320.1:n.633-8T>C
NM_173087.2:c.633-8T>C	NP_775110.1:n.633-8T>C