Canonical Allele Identifier: CA10641815

Gene: CAPN3

Linked Data

• ClinVar Variation Id: 315890
• ClinVar RCV Id: RCV000391068 ; RCV000349449 ; RCV000831632
• dbSNP Id: rs149698681
• gnomAD v2: 15-42651900-G-C
• gnomAD v3: 15-42359702-G-C
• gnomAD v4: 15-42359702-G-C
• MyVariant Identifiers: chr15:g.42651900G>C (hg19) ; chr15:g.42359702G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.42359702G>C , CM000677.2:g.42359702G>C	GRCh38
NC_000015.9:g.42651900G>C , CM000677.1:g.42651900G>C	GRCh37
NC_000015.8:g.40439192G>C	NCBI36
NG_008660.1:g.16600G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000349748.8:c.-104G>C	ENSP00000183936.4:n.-104G>C
ENST00000357568.8:c.-104G>C	ENSP00000350181.3:n.-104G>C
ENST00000397163.8:c.-104G>C MANE Select	ENSP00000380349.3:n.-104G>C
ENST00000466369.5:n.540+5249G>C
ENST00000483208.5:n.540+5249G>C
ENST00000495723.1:n.540+5249G>C
ENST00000549793.5:n.540+5249G>C
ENST00000318023.11:c.-104G>C	ENSP00000326281.8:n.-104G>C
ENST00000349748.7:c.-104G>C	ENSP00000183936.4:n.-104G>C
ENST00000357568.7:c.-104G>C	ENSP00000350181.3:n.-104G>C
ENST00000397163.7:c.-104G>C	ENSP00000380349.3:n.-104G>C
NM_000070.2:c.-104G>C	NP_000061.1:n.-104G>C
NM_024344.1:c.-104G>C	NP_077320.1:n.-104G>C
NM_173087.1:c.-104G>C	NP_775110.1:n.-104G>C
NM_000070.3:c.-104G>C MANE Select	NP_000061.1:n.-104G>C
NM_024344.2:c.-104G>C	NP_077320.1:n.-104G>C
NM_173087.2:c.-104G>C	NP_775110.1:n.-104G>C