Canonical Allele Identifier: CA7511448

Gene: CAPN3

Linked Data

• ClinVar Variation Id: 498267
• ClinVar RCV Id: RCV000595213 ; RCV000726807 ; RCV000762951 ; RCV003222054 ; RCV002298702
• dbSNP Id: rs142004418
• ExAC: 15:42695076 C / T
• gnomAD v2: 15-42695076-C-T
• gnomAD v3: 15-42402878-C-T
• gnomAD v4: 15-42402878-C-T
• MyVariant Identifiers: chr15:g.42695076C>T (hg19) ; chr15:g.42402878C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.42402878C>T , CM000677.2:g.42402878C>T	GRCh38
NC_000015.9:g.42695076C>T , CM000677.1:g.42695076C>T	GRCh37
NC_000015.8:g.40482368C>T	NCBI36
NG_008660.1:g.59776C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000349748.8:c.1477C>T	ENSP00000183936.4:p.Arg493Trp
ENST00000357568.8:c.1621C>T	ENSP00000350181.3:p.Arg541Trp
ENST00000397163.8:c.1621C>T MANE Select	ENSP00000380349.3:p.Arg541Trp
ENST00000466369.5:n.2130C>T
ENST00000483208.5:n.2510C>T
ENST00000495723.1:n.2510C>T
ENST00000549793.5:n.1852C>T
ENST00000638141.2:n.1492C>T
ENST00000673646.1:c.85C>T	ENSP00000501007.1:p.Arg29Trp
ENST00000673705.1:c.309+3226C>T	ENSP00000501021.1:n.309+3226C>T
ENST00000673813.1:n.543C>T
ENST00000318023.11:c.1477C>T	ENSP00000326281.8:p.Arg493Trp
ENST00000349748.7:c.1477C>T	ENSP00000183936.4:p.Arg493Trp
ENST00000357568.7:c.1621C>T	ENSP00000350181.3:p.Arg541Trp
ENST00000397163.7:c.1621C>T	ENSP00000380349.3:p.Arg541Trp
ENST00000397200.8:c.85C>T	ENSP00000380384.4:p.Arg29Trp
ENST00000567071.5:c.80C>T
ENST00000569827.5:c.85C>T	ENSP00000454379.1:p.Arg29Trp
NM_000070.2:c.1621C>T	NP_000061.1:p.Arg541Trp
NM_024344.1:c.1621C>T	NP_077320.1:p.Arg541Trp
NM_173087.1:c.1477C>T	NP_775110.1:p.Arg493Trp
NM_173088.1:c.85C>T	NP_775111.1:p.Arg29Trp
NM_000070.3:c.1621C>T MANE Select	NP_000061.1:p.Arg541Trp
NM_024344.2:c.1621C>T	NP_077320.1:p.Arg541Trp
NM_173087.2:c.1477C>T	NP_775110.1:p.Arg493Trp
NM_173088.2:c.85C>T	NP_775111.1:p.Arg29Trp