Canonical Allele Identifier: CA145724

Gene: CAPN3

Linked Data

• ClinVar Variation Id: 92419
• ClinVar RCV Id: RCV000078101 ; RCV000314855 ; RCV000362522 ; RCV000711022
• dbSNP Id: rs28364364
• ExAC: 15:42652065 G / A
• gnomAD v2: 15-42652065-G-A
• gnomAD v3: 15-42359867-G-A
• gnomAD v4: 15-42359867-G-A
• MyVariant Identifiers: chr15:g.42652065G>A (hg19) ; chr15:g.42359867G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.42359867G>A , CM000677.2:g.42359867G>A	GRCh38
NC_000015.9:g.42652065G>A , CM000677.1:g.42652065G>A	GRCh37
NC_000015.8:g.40439357G>A	NCBI36
NG_008660.1:g.16765G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000349748.8:c.62G>A	ENSP00000183936.4:p.Gly21Glu
ENST00000357568.8:c.62G>A	ENSP00000350181.3:p.Gly21Glu
ENST00000397163.8:c.62G>A MANE Select	ENSP00000380349.3:p.Gly21Glu
ENST00000466369.5:n.540+5414G>A
ENST00000483208.5:n.540+5414G>A
ENST00000495723.1:n.540+5414G>A
ENST00000549793.5:n.540+5414G>A
ENST00000318023.11:c.62G>A	ENSP00000326281.8:p.Gly21Glu
ENST00000349748.7:c.62G>A	ENSP00000183936.4:p.Gly21Glu
ENST00000357568.7:c.62G>A	ENSP00000350181.3:p.Gly21Glu
ENST00000397163.7:c.62G>A	ENSP00000380349.3:p.Gly21Glu
NM_000070.2:c.62G>A	NP_000061.1:p.Gly21Glu
NM_024344.1:c.62G>A	NP_077320.1:p.Gly21Glu
NM_173087.1:c.62G>A	NP_775110.1:p.Gly21Glu
NM_000070.3:c.62G>A MANE Select	NP_000061.1:p.Gly21Glu
NM_024344.2:c.62G>A	NP_077320.1:p.Gly21Glu
NM_173087.2:c.62G>A	NP_775110.1:p.Gly21Glu