Canonical Allele Identifier: CA969123354

Gene: CAPN3

Linked Data

• dbSNP Id: rs2053583198
• gnomAD v3: 15-42392510-C-T
• gnomAD v4: 15-42392510-C-T

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.42392510C>T , CM000677.2:g.42392510C>T	GRCh38
NC_000015.9:g.42684708C>T , CM000677.1:g.42684708C>T	GRCh37
NC_000015.8:g.40472000C>T	NCBI36
NG_008660.1:g.49408C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000349748.8:c.802-129C>T	ENSP00000183936.4:n.802-129C>T
ENST00000357568.8:c.946-129C>T	ENSP00000350181.3:n.946-129C>T
ENST00000397163.8:c.946-129C>T MANE Select	ENSP00000380349.3:n.946-129C>T
ENST00000466369.5:n.1455-129C>T
ENST00000483208.5:n.1177-129C>T
ENST00000495723.1:n.1177-129C>T
ENST00000549793.5:n.1177-129C>T
ENST00000638141.2:n.817-129C>T
ENST00000673705.1:c.71-4290C>T	ENSP00000501021.1:n.71-4290C>T
ENST00000318023.11:c.802-129C>T	ENSP00000326281.8:n.802-129C>T
ENST00000349748.7:c.802-129C>T	ENSP00000183936.4:n.802-129C>T
ENST00000357568.7:c.946-129C>T	ENSP00000350181.3:n.946-129C>T
ENST00000397163.7:c.946-129C>T	ENSP00000380349.3:n.946-129C>T
NM_000070.2:c.946-129C>T	NP_000061.1:n.946-129C>T
NM_024344.1:c.946-129C>T	NP_077320.1:n.946-129C>T
NM_173087.1:c.802-129C>T	NP_775110.1:n.802-129C>T
NM_000070.3:c.946-129C>T MANE Select	NP_000061.1:n.946-129C>T
NM_024344.2:c.946-129C>T	NP_077320.1:n.946-129C>T
NM_173087.2:c.802-129C>T	NP_775110.1:n.802-129C>T