Canonical Allele Identifier: CA7511134

Gene: CAPN3

Linked Data

• ClinVar Variation Id: 280037
• ClinVar RCV Id: RCV000383471 ; RCV000400325 ; RCV002479996 ; RCV003475885
• dbSNP Id: rs761211705
• ExAC: 15:42682142 G / A
• gnomAD v2: 15-42682142-G-A
• gnomAD v3: 15-42389944-G-A
• gnomAD v4: 15-42389944-G-A
• MyVariant Identifiers: chr15:g.42682142G>A (hg19) ; chr15:g.42389944G>A (hg38)
• PubMed: PMID:23891399

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.42389944G>A , CM000677.2:g.42389944G>A	GRCh38
NC_000015.9:g.42682142G>A , CM000677.1:g.42682142G>A	GRCh37
NC_000015.8:g.40469434G>A	NCBI36
NG_008660.1:g.46842G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000349748.8:c.801+848G>A	ENSP00000183936.4:n.801+848G>A
ENST00000357568.8:c.802-9G>A	ENSP00000350181.3:n.802-9G>A
ENST00000397163.8:c.802-9G>A MANE Select	ENSP00000380349.3:n.802-9G>A
ENST00000466369.5:n.1311-9G>A
ENST00000483208.5:n.1033-9G>A
ENST00000495723.1:n.1033-9G>A
ENST00000549793.5:n.1033-9G>A
ENST00000638141.2:n.816+848G>A
ENST00000673705.1:c.70+5392G>A	ENSP00000501021.1:n.70+5392G>A
ENST00000318023.11:c.801+848G>A	ENSP00000326281.8:n.801+848G>A
ENST00000349748.7:c.801+848G>A	ENSP00000183936.4:n.801+848G>A
ENST00000357568.7:c.802-9G>A	ENSP00000350181.3:n.802-9G>A
ENST00000397163.7:c.802-9G>A	ENSP00000380349.3:n.802-9G>A
NM_000070.2:c.802-9G>A	NP_000061.1:n.802-9G>A
NM_024344.1:c.802-9G>A	NP_077320.1:n.802-9G>A
NM_173087.1:c.801+848G>A	NP_775110.1:n.801+848G>A
NM_000070.3:c.802-9G>A MANE Select	NP_000061.1:n.802-9G>A
NM_024344.2:c.802-9G>A	NP_077320.1:n.802-9G>A
NM_173087.2:c.801+848G>A	NP_775110.1:n.801+848G>A