Canonical Allele Identifier: CA7511192

Gene: CAPN3

Linked Data

• ClinVar Variation Id: 254877
• ClinVar RCV Id: RCV000252415
• dbSNP Id: rs139297309
• ExAC: 15:42684803 G / A
• gnomAD v2: 15-42684803-G-A
• gnomAD v3: 15-42392605-G-A
• gnomAD v4: 15-42392605-G-A
• MyVariant Identifiers: chr15:g.42684803G>A (hg19) ; chr15:g.42392605G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.42392605G>A , CM000677.2:g.42392605G>A	GRCh38
NC_000015.9:g.42684803G>A , CM000677.1:g.42684803G>A	GRCh37
NC_000015.8:g.40472095G>A	NCBI36
NG_008660.1:g.49503G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000349748.8:c.802-34G>A	ENSP00000183936.4:n.802-34G>A
ENST00000357568.8:c.946-34G>A	ENSP00000350181.3:n.946-34G>A
ENST00000397163.8:c.946-34G>A MANE Select	ENSP00000380349.3:n.946-34G>A
ENST00000466369.5:n.1455-34G>A
ENST00000483208.5:n.1177-34G>A
ENST00000495723.1:n.1177-34G>A
ENST00000549793.5:n.1177-34G>A
ENST00000638141.2:n.817-34G>A
ENST00000673705.1:c.71-4195G>A	ENSP00000501021.1:n.71-4195G>A
ENST00000318023.11:c.802-34G>A	ENSP00000326281.8:n.802-34G>A
ENST00000349748.7:c.802-34G>A	ENSP00000183936.4:n.802-34G>A
ENST00000357568.7:c.946-34G>A	ENSP00000350181.3:n.946-34G>A
ENST00000397163.7:c.946-34G>A	ENSP00000380349.3:n.946-34G>A
NM_000070.2:c.946-34G>A	NP_000061.1:n.946-34G>A
NM_024344.1:c.946-34G>A	NP_077320.1:n.946-34G>A
NM_173087.1:c.802-34G>A	NP_775110.1:n.802-34G>A
NM_000070.3:c.946-34G>A MANE Select	NP_000061.1:n.946-34G>A
NM_024344.2:c.946-34G>A	NP_077320.1:n.946-34G>A
NM_173087.2:c.802-34G>A	NP_775110.1:n.802-34G>A