Canonical Allele Identifier: CA391998254

Gene: CAPN3

Linked Data

• dbSNP Id: rs1452270048
• gnomAD v2: 15-42681223-G-A
• gnomAD v4: 15-42389025-G-A
• MyVariant Identifiers: chr15:g.42681223G>A (hg19) ; chr15:g.42389025G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.42389025G>A , CM000677.2:g.42389025G>A	GRCh38
NC_000015.9:g.42681223G>A , CM000677.1:g.42681223G>A	GRCh37
NC_000015.8:g.40468515G>A	NCBI36
NG_008660.1:g.45923G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000349748.8:c.730G>A	ENSP00000183936.4:p.Ala244Thr
ENST00000357568.8:c.730G>A	ENSP00000350181.3:p.Ala244Thr
ENST00000397163.8:c.730G>A MANE Select	ENSP00000380349.3:p.Ala244Thr
ENST00000466369.5:n.1239G>A
ENST00000483208.5:n.961G>A
ENST00000495723.1:n.961G>A
ENST00000549793.5:n.961G>A
ENST00000638141.2:n.745G>A
ENST00000673705.1:c.70+4473G>A	ENSP00000501021.1:n.70+4473G>A
ENST00000318023.11:c.730G>A	ENSP00000326281.8:p.Ala244Thr
ENST00000349748.7:c.730G>A	ENSP00000183936.4:p.Ala244Thr
ENST00000357568.7:c.730G>A	ENSP00000350181.3:p.Ala244Thr
ENST00000397163.7:c.730G>A	ENSP00000380349.3:p.Ala244Thr
NM_000070.2:c.730G>A	NP_000061.1:p.Ala244Thr
NM_024344.1:c.730G>A	NP_077320.1:p.Ala244Thr
NM_173087.1:c.730G>A	NP_775110.1:p.Ala244Thr
NM_000070.3:c.730G>A MANE Select	NP_000061.1:p.Ala244Thr
NM_024344.2:c.730G>A	NP_077320.1:p.Ala244Thr
NM_173087.2:c.730G>A	NP_775110.1:p.Ala244Thr