Canonical Allele Identifier: CA10605405

Gene: CAPN3

Linked Data

• ClinVar Variation Id: 286231
• ClinVar RCV Id: RCV000285940 ; RCV001479502
• dbSNP Id: rs886043344
• gnomAD v2: 15-42686447-G-A
• gnomAD v3: 15-42394249-G-A
• gnomAD v4: 15-42394249-G-A
• MyVariant Identifiers: chr15:g.42686447G>A (hg19) ; chr15:g.42394249G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.42394249G>A , CM000677.2:g.42394249G>A	GRCh38
NC_000015.9:g.42686447G>A , CM000677.1:g.42686447G>A	GRCh37
NC_000015.8:g.40473739G>A	NCBI36
NG_008660.1:g.51147G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000349748.8:c.886-7G>A	ENSP00000183936.4:n.886-7G>A
ENST00000357568.8:c.1030-7G>A	ENSP00000350181.3:n.1030-7G>A
ENST00000397163.8:c.1030-7G>A MANE Select	ENSP00000380349.3:n.1030-7G>A
ENST00000466369.5:n.1539-7G>A
ENST00000483208.5:n.1261-7G>A
ENST00000495723.1:n.1261-7G>A
ENST00000549793.5:n.1261-7G>A
ENST00000638141.2:n.901-7G>A
ENST00000673658.1:n.14-7G>A
ENST00000673705.1:c.71-2551G>A	ENSP00000501021.1:n.71-2551G>A
ENST00000318023.11:c.886-7G>A	ENSP00000326281.8:n.886-7G>A
ENST00000349748.7:c.886-7G>A	ENSP00000183936.4:n.886-7G>A
ENST00000357568.7:c.1030-7G>A	ENSP00000350181.3:n.1030-7G>A
ENST00000397163.7:c.1030-7G>A	ENSP00000380349.3:n.1030-7G>A
NM_000070.2:c.1030-7G>A	NP_000061.1:n.1030-7G>A
NM_024344.1:c.1030-7G>A	NP_077320.1:n.1030-7G>A
NM_173087.1:c.886-7G>A	NP_775110.1:n.886-7G>A
NM_000070.3:c.1030-7G>A MANE Select	NP_000061.1:n.1030-7G>A
NM_024344.2:c.1030-7G>A	NP_077320.1:n.1030-7G>A
NM_173087.2:c.886-7G>A	NP_775110.1:n.886-7G>A