Canonical Allele Identifier: CA489999007

Gene: CAPN3

Linked Data

• ClinVar Variation Id: 1643852
• ClinVar RCV Id: RCV002145969
• dbSNP Id: rs1566965944
• MyVariant Identifiers: chr15:g.42652144C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.42359946C>T , CM000677.2:g.42359946C>T	GRCh38
NC_000015.9:g.42652144C>T , CM000677.1:g.42652144C>T	GRCh37
NC_000015.8:g.40439436C>T	NCBI36
NG_008660.1:g.16844C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000349748.8:c.141C>T	ENSP00000183936.4:p.Ile47=
ENST00000357568.8:c.141C>T	ENSP00000350181.3:p.Ile47=
ENST00000397163.8:c.141C>T MANE Select	ENSP00000380349.3:p.Ile47=
ENST00000466369.5:n.540+5493C>T
ENST00000483208.5:n.540+5493C>T
ENST00000495723.1:n.540+5493C>T
ENST00000549793.5:n.540+5493C>T
ENST00000318023.11:c.141C>T	ENSP00000326281.8:p.Ile47=
ENST00000349748.7:c.141C>T	ENSP00000183936.4:p.Ile47=
ENST00000357568.7:c.141C>T	ENSP00000350181.3:p.Ile47=
ENST00000397163.7:c.141C>T	ENSP00000380349.3:p.Ile47=
NM_000070.2:c.141C>T	NP_000061.1:p.Ile47=
NM_024344.1:c.141C>T	NP_077320.1:p.Ile47=
NM_173087.1:c.141C>T	NP_775110.1:p.Ile47=
NM_000070.3:c.141C>T MANE Select	NP_000061.1:p.Ile47=
NM_024344.2:c.141C>T	NP_077320.1:p.Ile47=
NM_173087.2:c.141C>T	NP_775110.1:p.Ile47=