Canonical Allele Identifier: CA7511190

Gene: CAPN3

Linked Data

• dbSNP Id: rs781449760
• ExAC: 15:42684800 C / A
• gnomAD v2: 15-42684800-C-A
• gnomAD v4: 15-42392602-C-A
• MyVariant Identifiers: chr15:g.42684800C>A (hg19) ; chr15:g.42392602C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.42392602C>A , CM000677.2:g.42392602C>A	GRCh38
NC_000015.9:g.42684800C>A , CM000677.1:g.42684800C>A	GRCh37
NC_000015.8:g.40472092C>A	NCBI36
NG_008660.1:g.49500C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000349748.8:c.802-37C>A	ENSP00000183936.4:n.802-37C>A
ENST00000357568.8:c.946-37C>A	ENSP00000350181.3:n.946-37C>A
ENST00000397163.8:c.946-37C>A MANE Select	ENSP00000380349.3:n.946-37C>A
ENST00000466369.5:n.1455-37C>A
ENST00000483208.5:n.1177-37C>A
ENST00000495723.1:n.1177-37C>A
ENST00000549793.5:n.1177-37C>A
ENST00000638141.2:n.817-37C>A
ENST00000673705.1:c.71-4198C>A	ENSP00000501021.1:n.71-4198C>A
ENST00000318023.11:c.802-37C>A	ENSP00000326281.8:n.802-37C>A
ENST00000349748.7:c.802-37C>A	ENSP00000183936.4:n.802-37C>A
ENST00000357568.7:c.946-37C>A	ENSP00000350181.3:n.946-37C>A
ENST00000397163.7:c.946-37C>A	ENSP00000380349.3:n.946-37C>A
NM_000070.2:c.946-37C>A	NP_000061.1:n.946-37C>A
NM_024344.1:c.946-37C>A	NP_077320.1:n.946-37C>A
NM_173087.1:c.802-37C>A	NP_775110.1:n.802-37C>A
NM_000070.3:c.946-37C>A MANE Select	NP_000061.1:n.946-37C>A
NM_024344.2:c.946-37C>A	NP_077320.1:n.946-37C>A
NM_173087.2:c.802-37C>A	NP_775110.1:n.802-37C>A