Canonical Allele Identifier: CA2172710387

Gene: CAPN3

Linked Data

• dbSNP Id: rs2053488115
• gnomAD v4: 15-42389154-C-T

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.42389154C>T , CM000677.2:g.42389154C>T	GRCh38
NC_000015.9:g.42681352C>T , CM000677.1:g.42681352C>T	GRCh37
NC_000015.8:g.40468644C>T	NCBI36
NG_008660.1:g.46052C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000349748.8:c.801+58C>T	ENSP00000183936.4:n.801+58C>T
ENST00000357568.8:c.801+58C>T	ENSP00000350181.3:n.801+58C>T
ENST00000397163.8:c.801+58C>T MANE Select	ENSP00000380349.3:n.801+58C>T
ENST00000466369.5:n.1310+58C>T
ENST00000483208.5:n.1032+58C>T
ENST00000495723.1:n.1032+58C>T
ENST00000549793.5:n.1032+58C>T
ENST00000638141.2:n.816+58C>T
ENST00000673705.1:c.70+4602C>T	ENSP00000501021.1:n.70+4602C>T
ENST00000318023.11:c.801+58C>T	ENSP00000326281.8:n.801+58C>T
ENST00000349748.7:c.801+58C>T	ENSP00000183936.4:n.801+58C>T
ENST00000357568.7:c.801+58C>T	ENSP00000350181.3:n.801+58C>T
ENST00000397163.7:c.801+58C>T	ENSP00000380349.3:n.801+58C>T
NM_000070.2:c.801+58C>T	NP_000061.1:n.801+58C>T
NM_024344.1:c.801+58C>T	NP_077320.1:n.801+58C>T
NM_173087.1:c.801+58C>T	NP_775110.1:n.801+58C>T
NM_000070.3:c.801+58C>T MANE Select	NP_000061.1:n.801+58C>T
NM_024344.2:c.801+58C>T	NP_077320.1:n.801+58C>T
NM_173087.2:c.801+58C>T	NP_775110.1:n.801+58C>T