Canonical Allele Identifier: CA391998193

Gene: CAPN3

Linked Data

• dbSNP Id: rs1302248441
• gnomAD v2: 15-42681196-G-C
• gnomAD v4: 15-42388998-G-C
• MyVariant Identifiers: chr15:g.42681196G>C (hg19) ; chr15:g.42388998G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.42388998G>C , CM000677.2:g.42388998G>C	GRCh38
NC_000015.9:g.42681196G>C , CM000677.1:g.42681196G>C	GRCh37
NC_000015.8:g.40468488G>C	NCBI36
NG_008660.1:g.45896G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000349748.8:c.703G>C	ENSP00000183936.4:p.Val235Leu
ENST00000357568.8:c.703G>C	ENSP00000350181.3:p.Val235Leu
ENST00000397163.8:c.703G>C MANE Select	ENSP00000380349.3:p.Val235Leu
ENST00000466369.5:n.1212G>C
ENST00000483208.5:n.934G>C
ENST00000495723.1:n.934G>C
ENST00000549793.5:n.934G>C
ENST00000638141.2:n.718G>C
ENST00000673705.1:c.70+4446G>C	ENSP00000501021.1:n.70+4446G>C
ENST00000318023.11:c.703G>C	ENSP00000326281.8:p.Val235Leu
ENST00000349748.7:c.703G>C	ENSP00000183936.4:p.Val235Leu
ENST00000357568.7:c.703G>C	ENSP00000350181.3:p.Val235Leu
ENST00000397163.7:c.703G>C	ENSP00000380349.3:p.Val235Leu
NM_000070.2:c.703G>C	NP_000061.1:p.Val235Leu
NM_024344.1:c.703G>C	NP_077320.1:p.Val235Leu
NM_173087.1:c.703G>C	NP_775110.1:p.Val235Leu
NM_000070.3:c.703G>C MANE Select	NP_000061.1:p.Val235Leu
NM_024344.2:c.703G>C	NP_077320.1:p.Val235Leu
NM_173087.2:c.703G>C	NP_775110.1:p.Val235Leu