Canonical Allele Identifier: CA7511069

Gene: CAPN3

Linked Data

• ClinVar Variation Id: 289751
• ClinVar RCV Id: RCV000314946 ; RCV000686362 ; RCV001267485
• dbSNP Id: rs763719290
• ExAC: 15:42680060 C / T
• gnomAD v2: 15-42680060-C-T
• gnomAD v4: 15-42387862-C-T
• MyVariant Identifiers: chr15:g.42680060C>T (hg19) ; chr15:g.42387862C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.42387862C>T , CM000677.2:g.42387862C>T	GRCh38
NC_000015.9:g.42680060C>T , CM000677.1:g.42680060C>T	GRCh37
NC_000015.8:g.40467352C>T	NCBI36
NG_008660.1:g.44760C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000349748.8:c.608C>T	ENSP00000183936.4:p.Ala203Val
ENST00000357568.8:c.608C>T	ENSP00000350181.3:p.Ala203Val
ENST00000397163.8:c.608C>T MANE Select	ENSP00000380349.3:p.Ala203Val
ENST00000466369.5:n.1117C>T
ENST00000483208.5:n.839C>T
ENST00000495723.1:n.839C>T
ENST00000549793.5:n.839C>T
ENST00000638141.2:n.623C>T
ENST00000673705.1:c.70+3310C>T	ENSP00000501021.1:n.70+3310C>T
ENST00000318023.11:c.608C>T	ENSP00000326281.8:p.Ala203Val
ENST00000349748.7:c.608C>T	ENSP00000183936.4:p.Ala203Val
ENST00000357568.7:c.608C>T	ENSP00000350181.3:p.Ala203Val
ENST00000397163.7:c.608C>T	ENSP00000380349.3:p.Ala203Val
NM_000070.2:c.608C>T	NP_000061.1:p.Ala203Val
NM_024344.1:c.608C>T	NP_077320.1:p.Ala203Val
NM_173087.1:c.608C>T	NP_775110.1:p.Ala203Val
NM_000070.3:c.608C>T MANE Select	NP_000061.1:p.Ala203Val
NM_024344.2:c.608C>T	NP_077320.1:p.Ala203Val
NM_173087.2:c.608C>T	NP_775110.1:p.Ala203Val