Canonical Allele Identifier: CA7511107

Gene: CAPN3

Linked Data

• ClinVar Variation Id: 289583
• ClinVar RCV Id: RCV000337197 ; RCV002518090
• dbSNP Id: rs748032310
• ExAC: 15:42681261 C / T
• gnomAD v2: 15-42681261-C-T
• gnomAD v3: 15-42389063-C-T
• gnomAD v4: 15-42389063-C-T
• COSMIC: COSM4508203 ; COSM4508204 ; COSM4508205 ; COSM4508206
• MyVariant Identifiers: chr15:g.42681261C>T (hg19) ; chr15:g.42389063C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.42389063C>T , CM000677.2:g.42389063C>T	GRCh38
NC_000015.9:g.42681261C>T , CM000677.1:g.42681261C>T	GRCh37
NC_000015.8:g.40468553C>T	NCBI36
NG_008660.1:g.45961C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000349748.8:c.768C>T	ENSP00000183936.4:p.Ile256=
ENST00000357568.8:c.768C>T	ENSP00000350181.3:p.Ile256=
ENST00000397163.8:c.768C>T MANE Select	ENSP00000380349.3:p.Ile256=
ENST00000466369.5:n.1277C>T
ENST00000483208.5:n.999C>T
ENST00000495723.1:n.999C>T
ENST00000549793.5:n.999C>T
ENST00000638141.2:n.783C>T
ENST00000673705.1:c.70+4511C>T	ENSP00000501021.1:n.70+4511C>T
ENST00000318023.11:c.768C>T	ENSP00000326281.8:p.Ile256=
ENST00000349748.7:c.768C>T	ENSP00000183936.4:p.Ile256=
ENST00000357568.7:c.768C>T	ENSP00000350181.3:p.Ile256=
ENST00000397163.7:c.768C>T	ENSP00000380349.3:p.Ile256=
NM_000070.2:c.768C>T	NP_000061.1:p.Ile256=
NM_024344.1:c.768C>T	NP_077320.1:p.Ile256=
NM_173087.1:c.768C>T	NP_775110.1:p.Ile256=
NM_000070.3:c.768C>T MANE Select	NP_000061.1:p.Ile256=
NM_024344.2:c.768C>T	NP_077320.1:p.Ile256=
NM_173087.2:c.768C>T	NP_775110.1:p.Ile256=