Canonical Allele Identifier: CA7511454

Gene: CAPN3

Linked Data

• ClinVar Variation Id: 289674
• ClinVar RCV Id: RCV000333524 ; RCV001081033
• dbSNP Id: rs146309264
• ExAC: 15:42695098 G / A
• gnomAD v2: 15-42695098-G-A
• gnomAD v3: 15-42402900-G-A
• gnomAD v4: 15-42402900-G-A
• MyVariant Identifiers: chr15:g.42695098G>A (hg19) ; chr15:g.42402900G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.42402900G>A , CM000677.2:g.42402900G>A	GRCh38
NC_000015.9:g.42695098G>A , CM000677.1:g.42695098G>A	GRCh37
NC_000015.8:g.40482390G>A	NCBI36
NG_008660.1:g.59798G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000349748.8:c.1499G>A	ENSP00000183936.4:p.Arg500His
ENST00000357568.8:c.1643G>A	ENSP00000350181.3:p.Arg548His
ENST00000397163.8:c.1643G>A MANE Select	ENSP00000380349.3:p.Arg548His
ENST00000466369.5:n.2152G>A
ENST00000483208.5:n.2532G>A
ENST00000495723.1:n.2532G>A
ENST00000549793.5:n.1874G>A
ENST00000638141.2:n.1514G>A
ENST00000673646.1:c.107G>A	ENSP00000501007.1:p.Arg36His
ENST00000673705.1:c.309+3248G>A	ENSP00000501021.1:n.309+3248G>A
ENST00000673813.1:n.565G>A
ENST00000318023.11:c.1499G>A	ENSP00000326281.8:p.Arg500His
ENST00000349748.7:c.1499G>A	ENSP00000183936.4:p.Arg500His
ENST00000357568.7:c.1643G>A	ENSP00000350181.3:p.Arg548His
ENST00000397163.7:c.1643G>A	ENSP00000380349.3:p.Arg548His
ENST00000397200.8:c.107G>A	ENSP00000380384.4:p.Arg36His
ENST00000567071.5:c.102G>A
ENST00000569827.5:c.107G>A	ENSP00000454379.1:p.Arg36His
NM_000070.2:c.1643G>A	NP_000061.1:p.Arg548His
NM_024344.1:c.1643G>A	NP_077320.1:p.Arg548His
NM_173087.1:c.1499G>A	NP_775110.1:p.Arg500His
NM_173088.1:c.107G>A	NP_775111.1:p.Arg36His
NM_000070.3:c.1643G>A MANE Select	NP_000061.1:p.Arg548His
NM_024344.2:c.1643G>A	NP_077320.1:p.Arg548His
NM_173087.2:c.1499G>A	NP_775110.1:p.Arg500His
NM_173088.2:c.107G>A	NP_775111.1:p.Arg36His