Canonical Allele Identifier: CA7511168

Gene: CAPN3

Linked Data

• ClinVar Variation Id: 281357
• ClinVar RCV Id: RCV000275858 ; RCV001697700 ; RCV000532053 ; RCV004542981
• dbSNP Id: rs150356488
• ExAC: 15:42682279 T / C
• gnomAD v2: 15-42682279-T-C
• gnomAD v3: 15-42390081-T-C
• gnomAD v4: 15-42390081-T-C
• MyVariant Identifiers: chr15:g.42682279T>C (hg19) ; chr15:g.42390081T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.42390081T>C , CM000677.2:g.42390081T>C	GRCh38
NC_000015.9:g.42682279T>C , CM000677.1:g.42682279T>C	GRCh37
NC_000015.8:g.40469571T>C	NCBI36
NG_008660.1:g.46979T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000349748.8:c.801+985T>C	ENSP00000183936.4:n.801+985T>C
ENST00000357568.8:c.930T>C	ENSP00000350181.3:p.Asp310=
ENST00000397163.8:c.930T>C MANE Select	ENSP00000380349.3:p.Asp310=
ENST00000466369.5:n.1439T>C
ENST00000483208.5:n.1161T>C
ENST00000495723.1:n.1161T>C
ENST00000549793.5:n.1161T>C
ENST00000638141.2:n.816+985T>C
ENST00000673705.1:c.70+5529T>C	ENSP00000501021.1:n.70+5529T>C
ENST00000318023.11:c.801+985T>C	ENSP00000326281.8:n.801+985T>C
ENST00000349748.7:c.801+985T>C	ENSP00000183936.4:n.801+985T>C
ENST00000357568.7:c.930T>C	ENSP00000350181.3:p.Asp310=
ENST00000397163.7:c.930T>C	ENSP00000380349.3:p.Asp310=
NM_000070.2:c.930T>C	NP_000061.1:p.Asp310=
NM_024344.1:c.930T>C	NP_077320.1:p.Asp310=
NM_173087.1:c.801+985T>C	NP_775110.1:n.801+985T>C
NM_000070.3:c.930T>C MANE Select	NP_000061.1:p.Asp310=
NM_024344.2:c.930T>C	NP_077320.1:p.Asp310=
NM_173087.2:c.801+985T>C	NP_775110.1:n.801+985T>C