Canonical Allele Identifier: CA7511150

Gene: CAPN3

Linked Data

• ClinVar Variation Id: 282646
• ClinVar RCV Id: RCV000340129 ; RCV000490012 ; RCV001814143 ; RCV002271482 ; RCV003475896
• dbSNP Id: rs528417986
• ExAC: 15:42682214 C / T
• gnomAD v2: 15-42682214-C-T
• gnomAD v3: 15-42390016-C-T
• gnomAD v4: 15-42390016-C-T
• MyVariant Identifiers: chr15:g.42682214C>T (hg19) ; chr15:g.42390016C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.42390016C>T , CM000677.2:g.42390016C>T	GRCh38
NC_000015.9:g.42682214C>T , CM000677.1:g.42682214C>T	GRCh37
NC_000015.8:g.40469506C>T	NCBI36
NG_008660.1:g.46914C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000349748.8:c.801+920C>T	ENSP00000183936.4:n.801+920C>T
ENST00000357568.8:c.865C>T	ENSP00000350181.3:p.Arg289Trp
ENST00000397163.8:c.865C>T MANE Select	ENSP00000380349.3:p.Arg289Trp
ENST00000466369.5:n.1374C>T
ENST00000483208.5:n.1096C>T
ENST00000495723.1:n.1096C>T
ENST00000549793.5:n.1096C>T
ENST00000638141.2:n.816+920C>T
ENST00000673705.1:c.70+5464C>T	ENSP00000501021.1:n.70+5464C>T
ENST00000318023.11:c.801+920C>T	ENSP00000326281.8:n.801+920C>T
ENST00000349748.7:c.801+920C>T	ENSP00000183936.4:n.801+920C>T
ENST00000357568.7:c.865C>T	ENSP00000350181.3:p.Arg289Trp
ENST00000397163.7:c.865C>T	ENSP00000380349.3:p.Arg289Trp
NM_000070.2:c.865C>T	NP_000061.1:p.Arg289Trp
NM_024344.1:c.865C>T	NP_077320.1:p.Arg289Trp
NM_173087.1:c.801+920C>T	NP_775110.1:n.801+920C>T
NM_000070.3:c.865C>T MANE Select	NP_000061.1:p.Arg289Trp
NM_024344.2:c.865C>T	NP_077320.1:p.Arg289Trp
NM_173087.2:c.801+920C>T	NP_775110.1:n.801+920C>T