Canonical Allele Identifier: CA16619927

Gene: CAPN3

Linked Data

• ClinVar Variation Id: 421264
• ClinVar RCV Id: RCV000481092 ; RCV001851202
• dbSNP Id: rs765292152
• gnomAD v4: 15-42389964-C-G
• MyVariant Identifiers: chr15:g.42682162C>G (hg19) ; chr15:g.42389964C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.42389964C>G , CM000677.2:g.42389964C>G	GRCh38
NC_000015.9:g.42682162C>G , CM000677.1:g.42682162C>G	GRCh37
NC_000015.8:g.40469454C>G	NCBI36
NG_008660.1:g.46862C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000349748.8:c.801+868C>G	ENSP00000183936.4:n.801+868C>G
ENST00000357568.8:c.813C>G	ENSP00000350181.3:p.Asn271Lys
ENST00000397163.8:c.813C>G MANE Select	ENSP00000380349.3:p.Asn271Lys
ENST00000466369.5:n.1322C>G
ENST00000483208.5:n.1044C>G
ENST00000495723.1:n.1044C>G
ENST00000549793.5:n.1044C>G
ENST00000638141.2:n.816+868C>G
ENST00000673705.1:c.70+5412C>G	ENSP00000501021.1:n.70+5412C>G
ENST00000318023.11:c.801+868C>G	ENSP00000326281.8:n.801+868C>G
ENST00000349748.7:c.801+868C>G	ENSP00000183936.4:n.801+868C>G
ENST00000357568.7:c.813C>G	ENSP00000350181.3:p.Asn271Lys
ENST00000397163.7:c.813C>G	ENSP00000380349.3:p.Asn271Lys
NM_000070.2:c.813C>G	NP_000061.1:p.Asn271Lys
NM_024344.1:c.813C>G	NP_077320.1:p.Asn271Lys
NM_173087.1:c.801+868C>G	NP_775110.1:n.801+868C>G
NM_000070.3:c.813C>G MANE Select	NP_000061.1:p.Asn271Lys
NM_024344.2:c.813C>G	NP_077320.1:p.Asn271Lys
NM_173087.2:c.801+868C>G	NP_775110.1:n.801+868C>G