Canonical Allele Identifier: CA7510921

Gene: CAPN3

Linked Data

• ClinVar Variation Id: 283107
• ClinVar RCV Id: RCV000440617 ; RCV000675143 ; RCV002282100 ; RCV003475901
• dbSNP Id: rs747026964
• ExAC: 15:42676709 T / C
• gnomAD v2: 15-42676709-T-C
• gnomAD v3: 15-42384511-T-C
• gnomAD v4: 15-42384511-T-C
• MyVariant Identifiers: chr15:g.42676709T>C (hg19) ; chr15:g.42384511T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.42384511T>C , CM000677.2:g.42384511T>C	GRCh38
NC_000015.9:g.42676709T>C , CM000677.1:g.42676709T>C	GRCh37
NC_000015.8:g.40464001T>C	NCBI36
NG_008660.1:g.41409T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000349748.8:c.338T>C	ENSP00000183936.4:p.Ile113Thr
ENST00000357568.8:c.338T>C	ENSP00000350181.3:p.Ile113Thr
ENST00000397163.8:c.338T>C MANE Select	ENSP00000380349.3:p.Ile113Thr
ENST00000466369.5:n.569T>C
ENST00000483208.5:n.569T>C
ENST00000495723.1:n.569T>C
ENST00000549793.5:n.569T>C
ENST00000638141.2:n.353T>C
ENST00000673705.1:c.29T>C	ENSP00000501021.1:p.Ile10Thr
ENST00000318023.11:c.338T>C	ENSP00000326281.8:p.Ile113Thr
ENST00000349748.7:c.338T>C	ENSP00000183936.4:p.Ile113Thr
ENST00000357568.7:c.338T>C	ENSP00000350181.3:p.Ile113Thr
ENST00000397163.7:c.338T>C	ENSP00000380349.3:p.Ile113Thr
NM_000070.2:c.338T>C	NP_000061.1:p.Ile113Thr
NM_024344.1:c.338T>C	NP_077320.1:p.Ile113Thr
NM_173087.1:c.338T>C	NP_775110.1:p.Ile113Thr
NM_000070.3:c.338T>C MANE Select	NP_000061.1:p.Ile113Thr
NM_024344.2:c.338T>C	NP_077320.1:p.Ile113Thr
NM_173087.2:c.338T>C	NP_775110.1:p.Ile113Thr