Canonical Allele Identifier: CA7511340

Gene: CAPN3

Linked Data

• ClinVar Variation Id: 288426
• ClinVar RCV Id: RCV000596715 ; RCV001072038 ; RCV003463772
• dbSNP Id: rs747557404
• ExAC: 15:42693838 G / C
• gnomAD v2: 15-42693838-G-C
• gnomAD v4: 15-42401640-G-C
• MyVariant Identifiers: chr15:g.42693838G>C (hg19) ; chr15:g.42401640G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.42401640G>C , CM000677.2:g.42401640G>C	GRCh38
NC_000015.9:g.42693838G>C , CM000677.1:g.42693838G>C	GRCh37
NC_000015.8:g.40481130G>C	NCBI36
NG_008660.1:g.58538G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000349748.8:c.1211-1G>C	ENSP00000183936.4:n.1211-1G>C
ENST00000357568.8:c.1355-1G>C	ENSP00000350181.3:n.1355-1G>C
ENST00000397163.8:c.1355-1G>C MANE Select	ENSP00000380349.3:n.1355-1G>C
ENST00000466369.5:n.1864-1G>C
ENST00000483208.5:n.1586-1G>C
ENST00000495723.1:n.1586-1G>C
ENST00000549793.5:n.1586-1G>C
ENST00000638141.2:n.1226-1G>C
ENST00000673705.1:c.309+1988G>C	ENSP00000501021.1:n.309+1988G>C
ENST00000318023.11:c.1211-1G>C	ENSP00000326281.8:n.1211-1G>C
ENST00000349748.7:c.1211-1G>C	ENSP00000183936.4:n.1211-1G>C
ENST00000357568.7:c.1355-1G>C	ENSP00000350181.3:n.1355-1G>C
ENST00000397163.7:c.1355-1G>C	ENSP00000380349.3:n.1355-1G>C
NM_000070.2:c.1355-1G>C	NP_000061.1:n.1355-1G>C
NM_024344.1:c.1355-1G>C	NP_077320.1:n.1355-1G>C
NM_173087.1:c.1211-1G>C	NP_775110.1:n.1211-1G>C
NM_000070.3:c.1355-1G>C MANE Select	NP_000061.1:n.1355-1G>C
NM_024344.2:c.1355-1G>C	NP_077320.1:n.1355-1G>C
NM_173087.2:c.1211-1G>C	NP_775110.1:n.1211-1G>C