Canonical Allele Identifier: CA7511112

Gene: CAPN3

Linked Data

• dbSNP Id: rs774013059
• ExAC: 15:42681289 A / G
• gnomAD v2: 15-42681289-A-G
• gnomAD v4: 15-42389091-A-G
• MyVariant Identifiers: chr15:g.42681289A>G (hg19) ; chr15:g.42389091A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.42389091A>G , CM000677.2:g.42389091A>G	GRCh38
NC_000015.9:g.42681289A>G , CM000677.1:g.42681289A>G	GRCh37
NC_000015.8:g.40468581A>G	NCBI36
NG_008660.1:g.45989A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000349748.8:c.796A>G	ENSP00000183936.4:p.Ile266Val
ENST00000357568.8:c.796A>G	ENSP00000350181.3:p.Ile266Val
ENST00000397163.8:c.796A>G MANE Select	ENSP00000380349.3:p.Ile266Val
ENST00000466369.5:n.1305A>G
ENST00000483208.5:n.1027A>G
ENST00000495723.1:n.1027A>G
ENST00000549793.5:n.1027A>G
ENST00000638141.2:n.811A>G
ENST00000673705.1:c.70+4539A>G	ENSP00000501021.1:n.70+4539A>G
ENST00000318023.11:c.796A>G	ENSP00000326281.8:p.Ile266Val
ENST00000349748.7:c.796A>G	ENSP00000183936.4:p.Ile266Val
ENST00000357568.7:c.796A>G	ENSP00000350181.3:p.Ile266Val
ENST00000397163.7:c.796A>G	ENSP00000380349.3:p.Ile266Val
NM_000070.2:c.796A>G	NP_000061.1:p.Ile266Val
NM_024344.1:c.796A>G	NP_077320.1:p.Ile266Val
NM_173087.1:c.796A>G	NP_775110.1:p.Ile266Val
NM_000070.3:c.796A>G MANE Select	NP_000061.1:p.Ile266Val
NM_024344.2:c.796A>G	NP_077320.1:p.Ile266Val
NM_173087.2:c.796A>G	NP_775110.1:p.Ile266Val