Canonical Allele Identifier: CA179842

Gene: CAPN3

Linked Data

• ClinVar Variation Id: 166793
• ClinVar RCV Id: RCV000152927 ; RCV000281259 ; RCV000338574 ; RCV000711018
• dbSNP Id: rs28364543
• ExAC: 15:42703537 T / C
• gnomAD v2: 15-42703537-T-C
• gnomAD v3: 15-42411339-T-C
• gnomAD v4: 15-42411339-T-C
• MyVariant Identifiers: chr15:g.42703537T>C (hg19) ; chr15:g.42411339T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.42411339T>C , CM000677.2:g.42411339T>C	GRCh38
NC_000015.9:g.42703537T>C , CM000677.1:g.42703537T>C	GRCh37
NC_000015.8:g.40490829T>C	NCBI36
NG_008660.1:g.68237T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000337571.9:c.438T>C	ENSP00000336840.4:p.Val146=
ENST00000349748.8:c.2157T>C	ENSP00000183936.4:p.Val719=
ENST00000357568.8:c.2415T>C	ENSP00000350181.3:p.Val805=
ENST00000397163.8:c.2433T>C MANE Select	ENSP00000380349.3:p.Val811=
ENST00000397204.9:c.438T>C	ENSP00000380387.4:p.Val146=
ENST00000466222.7:n.804T>C
ENST00000466369.5:n.2924T>C
ENST00000495723.1:n.3304T>C
ENST00000549793.5:n.2646T>C
ENST00000562199.2:c.437T>C	ENSP00000501034.1:n.437T>C
ENST00000567817.6:c.222T>C	ENSP00000456514.2:p.Val74=
ENST00000568153.2:c.299T>C
ENST00000569136.6:c.438T>C	ENSP00000455254.1:p.Val146=
ENST00000638141.2:n.2172T>C
ENST00000673646.1:c.997T>C	ENSP00000501007.1:n.997T>C
ENST00000673684.1:n.415T>C
ENST00000673692.1:c.438T>C	ENSP00000501138.1:p.Val146=
ENST00000673705.1:c.1262T>C	ENSP00000501021.1:n.1262T>C
ENST00000673743.1:c.336T>C	ENSP00000500989.1:p.Val112=
ENST00000673750.1:c.438T>C	ENSP00000501173.1:p.Val146=
ENST00000673771.1:c.438T>C	ENSP00000501023.1:p.Val146=
ENST00000673774.1:n.1566T>C
ENST00000673851.1:c.438T>C	ENSP00000501142.1:p.Val146=
ENST00000673854.1:n.5855T>C
ENST00000673886.1:c.438T>C	ENSP00000501155.1:p.Val146=
ENST00000673890.1:c.438T>C	ENSP00000501293.1:p.Val146=
ENST00000673928.1:c.438T>C	ENSP00000501099.1:p.Val146=
ENST00000673936.1:c.438T>C	ENSP00000501189.1:p.Val146=
ENST00000673939.1:c.*153T>C	ENSP00000501129.1:n.*153T>C
ENST00000673950.1:n.707T>C
ENST00000673978.1:c.576T>C	ENSP00000500976.1:p.Val192=
ENST00000673987.1:c.*153T>C	ENSP00000501231.1:n.*153T>C
ENST00000674011.1:c.*227T>C	ENSP00000501171.1:n.*227T>C
ENST00000674018.1:c.438T>C	ENSP00000501271.1:p.Val146=
ENST00000674027.1:n.584T>C
ENST00000674041.1:c.438T>C	ENSP00000500956.1:p.Val146=
ENST00000674052.1:c.657T>C	ENSP00000501057.1:p.Val219=
ENST00000674093.1:c.438T>C	ENSP00000501303.1:p.Val146=
ENST00000674119.1:c.438T>C	ENSP00000501217.1:p.Val146=
ENST00000674139.1:c.438T>C	ENSP00000501054.1:p.Val146=
ENST00000674146.1:c.438T>C	ENSP00000501175.1:p.Val146=
ENST00000674149.1:c.438T>C	ENSP00000501112.1:p.Val146=
ENST00000318023.11:c.2289T>C	ENSP00000326281.8:p.Val763=
ENST00000337571.8:c.438T>C	ENSP00000336840.4:p.Val146=
ENST00000349748.7:c.2157T>C	ENSP00000183936.4:p.Val719=
ENST00000356316.7:c.438T>C	ENSP00000348667.4:p.Val146=
ENST00000357568.7:c.2415T>C	ENSP00000350181.3:p.Val805=
ENST00000397163.7:c.2433T>C	ENSP00000380349.3:p.Val811=
ENST00000397200.8:c.897T>C	ENSP00000380384.4:p.Val299=
ENST00000397204.8:c.438T>C	ENSP00000380387.4:p.Val146=
ENST00000466222.6:n.1356T>C
ENST00000561817.5:c.438T>C	ENSP00000456575.1:p.Val146=
ENST00000564503.5:c.476T>C
ENST00000565274.5:c.611T>C	ENSP00000457759.1:n.611T>C
ENST00000567817.5:c.249T>C	ENSP00000456514.1:p.Val83=
ENST00000568153.1:c.170T>C
ENST00000569136.5:c.438T>C	ENSP00000455254.1:p.Val146=
ENST00000569827.5:c.765T>C	ENSP00000454379.1:p.Val255=
NM_000070.2:c.2433T>C	NP_000061.1:p.Val811=
NM_024344.1:c.2415T>C	NP_077320.1:p.Val805=
NM_173087.1:c.2157T>C	NP_775110.1:p.Val719=
NM_173088.1:c.897T>C	NP_775111.1:p.Val299=
NM_173089.1:c.438T>C	NP_775112.1:p.Val146=
NM_173090.1:c.438T>C	NP_775113.1:p.Val146=
NM_000070.3:c.2433T>C MANE Select	NP_000061.1:p.Val811=
NM_024344.2:c.2415T>C	NP_077320.1:p.Val805=
NM_173087.2:c.2157T>C	NP_775110.1:p.Val719=
NM_173088.2:c.897T>C	NP_775111.1:p.Val299=
NM_173089.2:c.438T>C	NP_775112.1:p.Val146=
NM_173090.2:c.438T>C	NP_775113.1:p.Val146=