Canonical Allele Identifier: CA7511438
Gene: CAPN3 HGNC NCBI

Linked Data

ClinVar Variation Id: 283141
dbSNP Id: rs201116482

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.42402823G>A , CM000677.2:g.42402823G>A GRCh38
NC_000015.9:g.42695021G>A , CM000677.1:g.42695021G>A GRCh37
NC_000015.8:g.40482313G>A NCBI36
NG_008660.1:g.59721G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000349748.8:c.1422G>A ENSP00000183936.4:p.Lys474=
ENST00000357568.8:c.1566G>A ENSP00000350181.3:p.Lys522=
ENST00000397163.8:c.1566G>A MANE Select ENSP00000380349.3:p.Lys522=
ENST00000466369.5:n.2075G>A
ENST00000483208.5:n.2455G>A
ENST00000495723.1:n.2455G>A
ENST00000549793.5:n.1797G>A
ENST00000638141.2:n.1437G>A
ENST00000673646.1:c.30G>A ENSP00000501007.1:p.Lys10=
ENST00000673705.1:c.309+3171G>A ENSP00000501021.1:n.309+3171G>A
ENST00000673813.1:n.488G>A
ENST00000318023.11:c.1422G>A ENSP00000326281.8:p.Lys474=
ENST00000349748.7:c.1422G>A ENSP00000183936.4:p.Lys474=
ENST00000357568.7:c.1566G>A ENSP00000350181.3:p.Lys522=
ENST00000397163.7:c.1566G>A ENSP00000380349.3:p.Lys522=
ENST00000397200.8:c.30G>A ENSP00000380384.4:p.Lys10=
ENST00000567071.5:c.25G>A
ENST00000569827.5:c.30G>A ENSP00000454379.1:p.Lys10=
NM_000070.2:c.1566G>A NP_000061.1:p.Lys522=
NM_024344.1:c.1566G>A NP_077320.1:p.Lys522=
NM_173087.1:c.1422G>A NP_775110.1:p.Lys474=
NM_173088.1:c.30G>A NP_775111.1:p.Lys10=
NM_000070.3:c.1566G>A MANE Select NP_000061.1:p.Lys522=
NM_024344.2:c.1566G>A NP_077320.1:p.Lys522=
NM_173087.2:c.1422G>A NP_775110.1:p.Lys474=
NM_173088.2:c.30G>A NP_775111.1:p.Lys10=