Canonical Allele Identifier: CA347568
Gene: CAPN3 HGNC NCBI
MyVariant.info:
GRCh38 chr15:g.42396801T>C
GRCh37 chr15:g.42688999T>C
Revel Score:
ENST00000356316 0.718
ENST00000397163 (MANE Select) 0.718
ENST00000357568 0.718
ENST00000349748 0.718
ENST00000318023 0.718
gnomAD v4:
chr15-42396801-T-C
Joint Max Group AF 0.00001062 (AFR)
Exomes Max Group AF 0.00002377 (AFR)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.42396801T>C , CM000677.2:g.42396801T>C GRCh38
NC_000015.9:g.42688999T>C , CM000677.1:g.42688999T>C GRCh37
NC_000015.8:g.40476291T>C NCBI36
NG_008660.1:g.53699T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000349748.8:c.973T>C ENSP00000183936.4:p.Trp325Arg
ENST00000357568.8:c.1117T>C ENSP00000350181.3:p.Trp373Arg
ENST00000397163.8:c.1117T>C MANE Select ENSP00000380349.3:p.Trp373Arg
ENST00000466369.5:n.1626T>C
ENST00000483208.5:n.1348T>C
ENST00000495723.1:n.1348T>C
ENST00000549793.5:n.1348T>C
ENST00000638141.2:n.988T>C
ENST00000673658.1:n.101T>C
ENST00000673705.1:c.72T>C ENSP00000501021.1:p.Asp24=
ENST00000318023.11:c.973T>C ENSP00000326281.8:p.Trp325Arg
ENST00000349748.7:c.973T>C ENSP00000183936.4:p.Trp325Arg
ENST00000357568.7:c.1117T>C ENSP00000350181.3:p.Trp373Arg
ENST00000397163.7:c.1117T>C ENSP00000380349.3:p.Trp373Arg
NM_000070.2:c.1117T>C NP_000061.1:p.Trp373Arg
NM_024344.1:c.1117T>C NP_077320.1:p.Trp373Arg
NM_173087.1:c.973T>C NP_775110.1:p.Trp325Arg
NM_000070.3:c.1117T>C MANE Select NP_000061.1:p.Trp373Arg
NM_024344.2:c.1117T>C NP_077320.1:p.Trp373Arg
NM_173087.2:c.973T>C NP_775110.1:p.Trp325Arg
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