Canonical Allele Identifier: CA7510921
Gene: CAPN3 HGNC NCBI
MyVariant.info:
GRCh38 chr15:g.42384511T>C
GRCh37 chr15:g.42676709T>C
Revel Score:
ENST00000356316 0.585
ENST00000397163 (MANE Select) 0.585
ENST00000357568 0.585
ENST00000349748 0.585
ENST00000318023 0.585
gnomAD v2:
15:42676709 T / C
gnomAD v3:
15:42384511 T / C
gnomAD v4:
chr15-42384511-T-C
Joint Max Group AF 0.00029844 (NFE)
Genomes Max Group AF 0.00014671 (NFE)
Exomes Max Group AF 0.00030227 (NFE)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.42384511T>C , CM000677.2:g.42384511T>C GRCh38
NC_000015.9:g.42676709T>C , CM000677.1:g.42676709T>C GRCh37
NC_000015.8:g.40464001T>C NCBI36
NG_008660.1:g.41409T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000349748.8:c.338T>C ENSP00000183936.4:p.Ile113Thr
ENST00000357568.8:c.338T>C ENSP00000350181.3:p.Ile113Thr
ENST00000397163.8:c.338T>C MANE Select ENSP00000380349.3:p.Ile113Thr
ENST00000466369.5:n.569T>C
ENST00000483208.5:n.569T>C
ENST00000495723.1:n.569T>C
ENST00000549793.5:n.569T>C
ENST00000638141.2:n.353T>C
ENST00000673705.1:c.29T>C ENSP00000501021.1:p.Ile10Thr
ENST00000318023.11:c.338T>C ENSP00000326281.8:p.Ile113Thr
ENST00000349748.7:c.338T>C ENSP00000183936.4:p.Ile113Thr
ENST00000357568.7:c.338T>C ENSP00000350181.3:p.Ile113Thr
ENST00000397163.7:c.338T>C ENSP00000380349.3:p.Ile113Thr
NM_000070.2:c.338T>C NP_000061.1:p.Ile113Thr
NM_024344.1:c.338T>C NP_077320.1:p.Ile113Thr
NM_173087.1:c.338T>C NP_775110.1:p.Ile113Thr
NM_000070.3:c.338T>C MANE Select NP_000061.1:p.Ile113Thr
NM_024344.2:c.338T>C NP_077320.1:p.Ile113Thr
NM_173087.2:c.338T>C NP_775110.1:p.Ile113Thr
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