CALR3

This page contains an overview of the genetic variation in the CALR3 gene, including its role in inherited cardiac disease. For more details, click on the links below, or for a specific variant, enter the HGVS variant here:

CALR3 gene and transcript details

Gene Name
calreticulin 3

Gene Links
Ensembl: ENSG00000141979 - Locus Reference Genomic: LRG_422

Genomic Location
Chromosome 19 : 16,589,942 - 16,606,940 (reverse strand)
View in: Ensembl - UCSC Genome Browser


Canonical Seqs Transcript (1152 bases)Protein (384 aa)
ENST00000269881 ENSP00000269881
LRG_422t1LRG_422p1
NM_145046.3
Q96L12

Summary of CALR3 in Cardiomyopathies

HCM - Hypertrophic Cardiomyopathy - explore in detail

Based on a detailed analysis of the role of CALR3 in HCM (see study in the European Heart Journal), it is classified as:
No Evidence.


CALR3 variants in ExAC

Details of the protein-altering CALR3 variants (missense, loss of function truncating, inframe indels and splice site regions) found in the ExAC database are shown below. To view lists of specific variants with links to detailed population frequency data, click on the variant numbers - for all or a particular variant class.

Total VariantsCombined frequency of rare variants
All Variants1690.00260
Truncating180.00024
Missense1320.00204
Inframe00.00000
Splice Site190.00033

Rare variants are defined as having a mean allelic frequency of less than 0.0001.