Canonical Allele Identifier: CA7511053

Gene: CAPN3

Linked Data

• ClinVar Variation Id: 512202
• ClinVar RCV Id: RCV000605183 ; RCV000730156 ; RCV001079344
• dbSNP Id: rs147808529
• ExAC: 15:42680004 G / A
• gnomAD v2: 15-42680004-G-A
• gnomAD v3: 15-42387806-G-A
• gnomAD v4: 15-42387806-G-A
• COSMIC: COSM1317791 ; COSM1317792
• MyVariant Identifiers: chr15:g.42680004G>A (hg19) ; chr15:g.42387806G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.42387806G>A , CM000677.2:g.42387806G>A	GRCh38
NC_000015.9:g.42680004G>A , CM000677.1:g.42680004G>A	GRCh37
NC_000015.8:g.40467296G>A	NCBI36
NG_008660.1:g.44704G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000349748.8:c.552G>A	ENSP00000183936.4:p.Thr184=
ENST00000357568.8:c.552G>A	ENSP00000350181.3:p.Thr184=
ENST00000397163.8:c.552G>A MANE Select	ENSP00000380349.3:p.Thr184=
ENST00000466369.5:n.1061G>A
ENST00000483208.5:n.783G>A
ENST00000495723.1:n.783G>A
ENST00000549793.5:n.783G>A
ENST00000638141.2:n.567G>A
ENST00000673705.1:c.70+3254G>A	ENSP00000501021.1:n.70+3254G>A
ENST00000318023.11:c.552G>A	ENSP00000326281.8:p.Thr184=
ENST00000349748.7:c.552G>A	ENSP00000183936.4:p.Thr184=
ENST00000357568.7:c.552G>A	ENSP00000350181.3:p.Thr184=
ENST00000397163.7:c.552G>A	ENSP00000380349.3:p.Thr184=
NM_000070.2:c.552G>A	NP_000061.1:p.Thr184=
NM_024344.1:c.552G>A	NP_077320.1:p.Thr184=
NM_173087.1:c.552G>A	NP_775110.1:p.Thr184=
NM_000070.3:c.552G>A MANE Select	NP_000061.1:p.Thr184=
NM_024344.2:c.552G>A	NP_077320.1:p.Thr184=
NM_173087.2:c.552G>A	NP_775110.1:p.Thr184=