Canonical Allele Identifier: CA391999678

Gene: CAPN3

Linked Data

• ClinVar Variation Id: 1299546
• ClinVar RCV Id: RCV001730018
• dbSNP Id: rs2141199370
• gnomAD v4: 15-42401649-T-C
• MyVariant Identifiers: chr15:g.42693847T>C (hg19) ; chr15:g.42401649T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.42401649T>C , CM000677.2:g.42401649T>C	GRCh38
NC_000015.9:g.42693847T>C , CM000677.1:g.42693847T>C	GRCh37
NC_000015.8:g.40481139T>C	NCBI36
NG_008660.1:g.58547T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000349748.8:c.1219T>C	ENSP00000183936.4:p.Trp407Arg
ENST00000357568.8:c.1363T>C	ENSP00000350181.3:p.Trp455Arg
ENST00000397163.8:c.1363T>C MANE Select	ENSP00000380349.3:p.Trp455Arg
ENST00000466369.5:n.1872T>C
ENST00000483208.5:n.1594T>C
ENST00000495723.1:n.1594T>C
ENST00000549793.5:n.1594T>C
ENST00000638141.2:n.1234T>C
ENST00000673705.1:c.309+1997T>C	ENSP00000501021.1:n.309+1997T>C
ENST00000318023.11:c.1219T>C	ENSP00000326281.8:p.Trp407Arg
ENST00000349748.7:c.1219T>C	ENSP00000183936.4:p.Trp407Arg
ENST00000357568.7:c.1363T>C	ENSP00000350181.3:p.Trp455Arg
ENST00000397163.7:c.1363T>C	ENSP00000380349.3:p.Trp455Arg
NM_000070.2:c.1363T>C	NP_000061.1:p.Trp455Arg
NM_024344.1:c.1363T>C	NP_077320.1:p.Trp455Arg
NM_173087.1:c.1219T>C	NP_775110.1:p.Trp407Arg
NM_000070.3:c.1363T>C MANE Select	NP_000061.1:p.Trp455Arg
NM_024344.2:c.1363T>C	NP_077320.1:p.Trp455Arg
NM_173087.2:c.1219T>C	NP_775110.1:p.Trp407Arg