Canonical Allele Identifier: CA341532

Gene: CAPN3

Linked Data

• ClinVar Variation Id: 21036
• ClinVar RCV Id: RCV000020097
• dbSNP Id: rs80338801
• gnomAD v4: 15-42392638-G-A
• MyVariant Identifiers: chr15:g.42684836G>A (hg19) ; chr15:g.42392638G>A (hg38)
• PubMed: PMID:8624690 ; PMID:9777948 ; PMID:20301490

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.42392638G>A , CM000677.2:g.42392638G>A	GRCh38
NC_000015.9:g.42684836G>A , CM000677.1:g.42684836G>A	GRCh37
NC_000015.8:g.40472128G>A	NCBI36
NG_008660.1:g.49536G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000349748.8:c.802-1G>A	ENSP00000183936.4:n.802-1G>A
ENST00000357568.8:c.946-1G>A	ENSP00000350181.3:n.946-1G>A
ENST00000397163.8:c.946-1G>A MANE Select	ENSP00000380349.3:n.946-1G>A
ENST00000466369.5:n.1455-1G>A
ENST00000483208.5:n.1177-1G>A
ENST00000495723.1:n.1177-1G>A
ENST00000549793.5:n.1177-1G>A
ENST00000638141.2:n.817-1G>A
ENST00000673705.1:c.71-4162G>A	ENSP00000501021.1:n.71-4162G>A
ENST00000318023.11:c.802-1G>A	ENSP00000326281.8:n.802-1G>A
ENST00000349748.7:c.802-1G>A	ENSP00000183936.4:n.802-1G>A
ENST00000357568.7:c.946-1G>A	ENSP00000350181.3:n.946-1G>A
ENST00000397163.7:c.946-1G>A	ENSP00000380349.3:n.946-1G>A
NM_000070.2:c.946-1G>A	NP_000061.1:n.946-1G>A
NM_024344.1:c.946-1G>A	NP_077320.1:n.946-1G>A
NM_173087.1:c.802-1G>A	NP_775110.1:n.802-1G>A
NM_000070.3:c.946-1G>A MANE Select	NP_000061.1:n.946-1G>A
NM_024344.2:c.946-1G>A	NP_077320.1:n.946-1G>A
NM_173087.2:c.802-1G>A	NP_775110.1:n.802-1G>A