Canonical Allele Identifier: CA7511378

Gene: CAPN3

Linked Data

• ClinVar Variation Id: 995061
• ClinVar RCV Id: RCV001288904 ; RCV001321442
• dbSNP Id: rs140828326
• ExAC: 15:42694000 A / C
• gnomAD v2: 15-42694000-A-C
• gnomAD v3: 15-42401802-A-C
• gnomAD v4: 15-42401802-A-C
• MyVariant Identifiers: chr15:g.42694000A>C (hg19) ; chr15:g.42401802A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.42401802A>C , CM000677.2:g.42401802A>C	GRCh38
NC_000015.9:g.42694000A>C , CM000677.1:g.42694000A>C	GRCh37
NC_000015.8:g.40481292A>C	NCBI36
NG_008660.1:g.58700A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000349748.8:c.1372A>C	ENSP00000183936.4:p.Ile458Leu
ENST00000357568.8:c.1516A>C	ENSP00000350181.3:p.Ile506Leu
ENST00000397163.8:c.1516A>C MANE Select	ENSP00000380349.3:p.Ile506Leu
ENST00000466369.5:n.2025A>C
ENST00000483208.5:n.1747A>C
ENST00000495723.1:n.1747A>C
ENST00000549793.5:n.1747A>C
ENST00000638141.2:n.1387A>C
ENST00000673705.1:c.309+2150A>C	ENSP00000501021.1:n.309+2150A>C
ENST00000318023.11:c.1372A>C	ENSP00000326281.8:p.Ile458Leu
ENST00000349748.7:c.1372A>C	ENSP00000183936.4:p.Ile458Leu
ENST00000357568.7:c.1516A>C	ENSP00000350181.3:p.Ile506Leu
ENST00000397163.7:c.1516A>C	ENSP00000380349.3:p.Ile506Leu
NM_000070.2:c.1516A>C	NP_000061.1:p.Ile506Leu
NM_024344.1:c.1516A>C	NP_077320.1:p.Ile506Leu
NM_173087.1:c.1372A>C	NP_775110.1:p.Ile458Leu
NM_000070.3:c.1516A>C MANE Select	NP_000061.1:p.Ile506Leu
NM_024344.2:c.1516A>C	NP_077320.1:p.Ile506Leu
NM_173087.2:c.1372A>C	NP_775110.1:p.Ile458Leu