Canonical Allele Identifier: CA347575

Gene: CAPN3

Linked Data

• ClinVar Variation Id: 217148
• ClinVar RCV Id: RCV000201177 ; RCV000762947 ; RCV001781585 ; RCV003235123 ; RCV003462346
• dbSNP Id: rs774048743
• ExAC: 15:42652136 G / A
• gnomAD v2: 15-42652136-G-A
• gnomAD v3: 15-42359938-G-A
• gnomAD v4: 15-42359938-G-A
• MyVariant Identifiers: chr15:g.42652136G>A (hg19) ; chr15:g.42359938G>A (hg38)
• PubMed: PMID:15351423 ; PMID:16650086 ; PMID:17157502 ; PMID:18055493

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.42359938G>A , CM000677.2:g.42359938G>A	GRCh38
NC_000015.9:g.42652136G>A , CM000677.1:g.42652136G>A	GRCh37
NC_000015.8:g.40439428G>A	NCBI36
NG_008660.1:g.16836G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000349748.8:c.133G>A	ENSP00000183936.4:p.Ala45Thr
ENST00000357568.8:c.133G>A	ENSP00000350181.3:p.Ala45Thr
ENST00000397163.8:c.133G>A MANE Select	ENSP00000380349.3:p.Ala45Thr
ENST00000466369.5:n.540+5485G>A
ENST00000483208.5:n.540+5485G>A
ENST00000495723.1:n.540+5485G>A
ENST00000549793.5:n.540+5485G>A
ENST00000318023.11:c.133G>A	ENSP00000326281.8:p.Ala45Thr
ENST00000349748.7:c.133G>A	ENSP00000183936.4:p.Ala45Thr
ENST00000357568.7:c.133G>A	ENSP00000350181.3:p.Ala45Thr
ENST00000397163.7:c.133G>A	ENSP00000380349.3:p.Ala45Thr
NM_000070.2:c.133G>A	NP_000061.1:p.Ala45Thr
NM_024344.1:c.133G>A	NP_077320.1:p.Ala45Thr
NM_173087.1:c.133G>A	NP_775110.1:p.Ala45Thr
NM_000070.3:c.133G>A MANE Select	NP_000061.1:p.Ala45Thr
NM_024344.2:c.133G>A	NP_077320.1:p.Ala45Thr
NM_173087.2:c.133G>A	NP_775110.1:p.Ala45Thr