Canonical Allele Identifier: CA7511463
Gene: CAPN3 HGNC NCBI

Linked Data

ClinVar Variation Id: 254862
dbSNP Id: rs199884116

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.42402925C>T , CM000677.2:g.42402925C>T GRCh38
NC_000015.9:g.42695123C>T , CM000677.1:g.42695123C>T GRCh37
NC_000015.8:g.40482415C>T NCBI36
NG_008660.1:g.59823C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000349748.8:c.1524C>T ENSP00000183936.4:p.Ile508=
ENST00000357568.8:c.1668C>T ENSP00000350181.3:p.Ile556=
ENST00000397163.8:c.1668C>T MANE Select ENSP00000380349.3:p.Ile556=
ENST00000466369.5:n.2177C>T
ENST00000483208.5:n.2557C>T
ENST00000495723.1:n.2557C>T
ENST00000549793.5:n.1899C>T
ENST00000638141.2:n.1539C>T
ENST00000673646.1:c.132C>T ENSP00000501007.1:p.Ile44=
ENST00000673705.1:c.309+3273C>T ENSP00000501021.1:n.309+3273C>T
ENST00000673813.1:n.580+10C>T
ENST00000318023.11:c.1524C>T ENSP00000326281.8:p.Ile508=
ENST00000349748.7:c.1524C>T ENSP00000183936.4:p.Ile508=
ENST00000357568.7:c.1668C>T ENSP00000350181.3:p.Ile556=
ENST00000397163.7:c.1668C>T ENSP00000380349.3:p.Ile556=
ENST00000397200.8:c.132C>T ENSP00000380384.4:p.Ile44=
ENST00000567071.5:c.127C>T
ENST00000569827.5:c.132C>T ENSP00000454379.1:p.Ile44=
NM_000070.2:c.1668C>T NP_000061.1:p.Ile556=
NM_024344.1:c.1668C>T NP_077320.1:p.Ile556=
NM_173087.1:c.1524C>T NP_775110.1:p.Ile508=
NM_173088.1:c.132C>T NP_775111.1:p.Ile44=
NM_000070.3:c.1668C>T MANE Select NP_000061.1:p.Ile556=
NM_024344.2:c.1668C>T NP_077320.1:p.Ile556=
NM_173087.2:c.1524C>T NP_775110.1:p.Ile508=
NM_173088.2:c.132C>T NP_775111.1:p.Ile44=