Canonical Allele Identifier: CA9235817
Gene: CALR HGNC NCBI
ClinVar RCV:
RCV003951701
ClinVar Variation:
3046043
dbSNP:
147369833
gnomAD v2:
19:13051130 G / C
gnomAD v3:
19:12940316 G / C
gnomAD v4:
chr19-12940316-G-C
Joint Max Group AF 0.00190086 (NFE)
Genomes Max Group AF 0.00134472 (NFE)
Exomes Max Group AF 0.00192187 (NFE)
MyVariant.info:
GRCh38 chr19:g.12940316G>C
GRCh37 chr19:g.13051130G>C
Revel Score:
ENST00000316448 (MANE Select) 0.036
ENST00000539083 0.036
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.12940316G>C , CM000681.2:g.12940316G>C GRCh38
NC_000019.9:g.13051130G>C , CM000681.1:g.13051130G>C GRCh37
NC_000019.8:g.12912130G>C NCBI36
NG_029662.1:g.6717G>C , LRG_828:g.6717G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000316448.10:c.566G>C MANE Select ENSP00000320866.4:p.Ser189Thr
ENST00000586760.2:c.566G>C ENSP00000465918.2:p.Ser189Thr
ENST00000586967.2:c.566G>C ENSP00000466037.2:p.Ser189Thr
ENST00000588454.6:c.362G>C ENSP00000465105.2:p.Ser121Thr
ENST00000680816.1:c.566G>C ENSP00000504963.1:p.Ser189Thr
ENST00000316448.9:c.566G>C ENSP00000320866.4:p.Ser189Thr
ENST00000588454.5:c.362G>C ENSP00000465105.1:p.Ser121Thr
ENST00000590325.1:n.727G>C
NM_004343.3:c.566G>C , LRG_828t1:c.566G>C NP_004334.1:p.Ser189Thr
NM_004343.4:c.566G>C MANE Select NP_004334.1:p.Ser189Thr
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