Canonical Allele Identifier: CA391998820
Gene: CAPN3 HGNC NCBI
MyVariant.info:
GRCh38 chr15:g.42392678G>A
GRCh37 chr15:g.42684876G>A
Revel Score:
ENST00000356316 0.856
ENST00000397163 (MANE Select) 0.856
ENST00000357568 0.856
ENST00000349748 0.856
ENST00000318023 0.856
gnomAD v4:
chr15-42392678-G-A
Joint Max Group AF 6.8e-7 (NFE)
Exomes Max Group AF 7.2e-7 (NFE)
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.42392678G>A , CM000677.2:g.42392678G>A GRCh38
NC_000015.9:g.42684876G>A , CM000677.1:g.42684876G>A GRCh37
NC_000015.8:g.40472168G>A NCBI36
NG_008660.1:g.49576G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000349748.8:c.841G>A ENSP00000183936.4:p.Gly281Arg
ENST00000357568.8:c.985G>A ENSP00000350181.3:p.Gly329Arg
ENST00000397163.8:c.985G>A MANE Select ENSP00000380349.3:p.Gly329Arg
ENST00000466369.5:n.1494G>A
ENST00000483208.5:n.1216G>A
ENST00000495723.1:n.1216G>A
ENST00000549793.5:n.1216G>A
ENST00000638141.2:n.856G>A
ENST00000673705.1:c.71-4122G>A ENSP00000501021.1:n.71-4122G>A
ENST00000318023.11:c.841G>A ENSP00000326281.8:p.Gly281Arg
ENST00000349748.7:c.841G>A ENSP00000183936.4:p.Gly281Arg
ENST00000357568.7:c.985G>A ENSP00000350181.3:p.Gly329Arg
ENST00000397163.7:c.985G>A ENSP00000380349.3:p.Gly329Arg
NM_000070.2:c.985G>A NP_000061.1:p.Gly329Arg
NM_024344.1:c.985G>A NP_077320.1:p.Gly329Arg
NM_173087.1:c.841G>A NP_775110.1:p.Gly281Arg
NM_000070.3:c.985G>A MANE Select NP_000061.1:p.Gly329Arg
NM_024344.2:c.985G>A NP_077320.1:p.Gly329Arg
NM_173087.2:c.841G>A NP_775110.1:p.Gly281Arg
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