Canonical Allele Identifier: CA7511345

Gene: CAPN3

Linked Data

• ClinVar Variation Id: 3011491
• ClinVar RCV Id: RCV003865114
• dbSNP Id: rs773631149
• ExAC: 15:42693859 C / T
• gnomAD v2: 15-42693859-C-T
• gnomAD v4: 15-42401661-C-T
• MyVariant Identifiers: chr15:g.42693859C>T (hg19) ; chr15:g.42401661C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.42401661C>T , CM000677.2:g.42401661C>T	GRCh38
NC_000015.9:g.42693859C>T , CM000677.1:g.42693859C>T	GRCh37
NC_000015.8:g.40481151C>T	NCBI36
NG_008660.1:g.58559C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000349748.8:c.1231C>T	ENSP00000183936.4:p.Gln411Ter
ENST00000357568.8:c.1375C>T	ENSP00000350181.3:p.Gln459Ter
ENST00000397163.8:c.1375C>T MANE Select	ENSP00000380349.3:p.Gln459Ter
ENST00000466369.5:n.1884C>T
ENST00000483208.5:n.1606C>T
ENST00000495723.1:n.1606C>T
ENST00000549793.5:n.1606C>T
ENST00000638141.2:n.1246C>T
ENST00000673705.1:c.309+2009C>T	ENSP00000501021.1:n.309+2009C>T
ENST00000318023.11:c.1231C>T	ENSP00000326281.8:p.Gln411Ter
ENST00000349748.7:c.1231C>T	ENSP00000183936.4:p.Gln411Ter
ENST00000357568.7:c.1375C>T	ENSP00000350181.3:p.Gln459Ter
ENST00000397163.7:c.1375C>T	ENSP00000380349.3:p.Gln459Ter
NM_000070.2:c.1375C>T	NP_000061.1:p.Gln459Ter
NM_024344.1:c.1375C>T	NP_077320.1:p.Gln459Ter
NM_173087.1:c.1231C>T	NP_775110.1:p.Gln411Ter
NM_000070.3:c.1375C>T MANE Select	NP_000061.1:p.Gln459Ter
NM_024344.2:c.1375C>T	NP_077320.1:p.Gln459Ter
NM_173087.2:c.1231C>T	NP_775110.1:p.Gln411Ter