Canonical Allele Identifier: CA347575
Gene: CAPN3 HGNC NCBI
MyVariant.info:
GRCh38 chr15:g.42359938G>A
GRCh37 chr15:g.42652136G>A
Revel Score:
ENST00000397163 (MANE Select) 0.674
ENST00000357568 0.674
ENST00000349748 0.674
ENST00000318023 0.674
gnomAD v2:
15:42652136 G / A
gnomAD v3:
15:42359938 G / A
gnomAD v4:
chr15-42359938-G-A
Joint Max Group AF 0.00006228 (NFE)
Exomes Max Group AF 0.00006521 (NFE)
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.42359938G>A , CM000677.2:g.42359938G>A GRCh38
NC_000015.9:g.42652136G>A , CM000677.1:g.42652136G>A GRCh37
NC_000015.8:g.40439428G>A NCBI36
NG_008660.1:g.16836G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000349748.8:c.133G>A ENSP00000183936.4:p.Ala45Thr
ENST00000357568.8:c.133G>A ENSP00000350181.3:p.Ala45Thr
ENST00000397163.8:c.133G>A MANE Select ENSP00000380349.3:p.Ala45Thr
ENST00000466369.5:n.540+5485G>A
ENST00000483208.5:n.540+5485G>A
ENST00000495723.1:n.540+5485G>A
ENST00000549793.5:n.540+5485G>A
ENST00000318023.11:c.133G>A ENSP00000326281.8:p.Ala45Thr
ENST00000349748.7:c.133G>A ENSP00000183936.4:p.Ala45Thr
ENST00000357568.7:c.133G>A ENSP00000350181.3:p.Ala45Thr
ENST00000397163.7:c.133G>A ENSP00000380349.3:p.Ala45Thr
NM_000070.2:c.133G>A NP_000061.1:p.Ala45Thr
NM_024344.1:c.133G>A NP_077320.1:p.Ala45Thr
NM_173087.1:c.133G>A NP_775110.1:p.Ala45Thr
NM_000070.3:c.133G>A MANE Select NP_000061.1:p.Ala45Thr
NM_024344.2:c.133G>A NP_077320.1:p.Ala45Thr
NM_173087.2:c.133G>A NP_775110.1:p.Ala45Thr
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