Canonical Allele Identifier: CA10604244
Gene: CAPN3 HGNC NCBI
MyVariant.info:
GRCh38 chr15:g.42388995G>A
GRCh37 chr15:g.42681193G>A
Revel Score:
ENST00000356316 0.929
ENST00000397163 (MANE Select) 0.929
ENST00000357568 0.929
ENST00000349748 0.929
ENST00000318023 0.929
gnomAD v4:
chr15-42388995-G-A
Joint Max Group AF 2.8e-7 (NFE)
Exomes Max Group AF 3e-7 (NFE)
ClinVar Allele:
266860
ClinVar RCV:
RCV000359000
RCV000819248
ClinVar Variation:
282623
dbSNP:
886042440
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.42388995G>A , CM000677.2:g.42388995G>A GRCh38
NC_000015.9:g.42681193G>A , CM000677.1:g.42681193G>A GRCh37
NC_000015.8:g.40468485G>A NCBI36
NG_008660.1:g.45893G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000349748.8:c.700G>A ENSP00000183936.4:p.Gly234Arg
ENST00000357568.8:c.700G>A ENSP00000350181.3:p.Gly234Arg
ENST00000397163.8:c.700G>A MANE Select ENSP00000380349.3:p.Gly234Arg
ENST00000466369.5:n.1209G>A
ENST00000483208.5:n.931G>A
ENST00000495723.1:n.931G>A
ENST00000549793.5:n.931G>A
ENST00000638141.2:n.715G>A
ENST00000673705.1:c.70+4443G>A ENSP00000501021.1:n.70+4443G>A
ENST00000318023.11:c.700G>A ENSP00000326281.8:p.Gly234Arg
ENST00000349748.7:c.700G>A ENSP00000183936.4:p.Gly234Arg
ENST00000357568.7:c.700G>A ENSP00000350181.3:p.Gly234Arg
ENST00000397163.7:c.700G>A ENSP00000380349.3:p.Gly234Arg
NM_000070.2:c.700G>A NP_000061.1:p.Gly234Arg
NM_024344.1:c.700G>A NP_077320.1:p.Gly234Arg
NM_173087.1:c.700G>A NP_775110.1:p.Gly234Arg
NM_000070.3:c.700G>A MANE Select NP_000061.1:p.Gly234Arg
NM_024344.2:c.700G>A NP_077320.1:p.Gly234Arg
NM_173087.2:c.700G>A NP_775110.1:p.Gly234Arg
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