Canonical Allele Identifier: CA9278190
Gene: CALR3 HGNC NCBI

Linked Data

ClinVar Variation Id: 241948
ClinVar RCV Id: RCV000232231 RCV000586675 RCV001699247
dbSNP Id: rs144370982
ExAC: 19:16590094 A / G
gnomAD v2: 19-16590094-A-G
gnomAD v3: 19-16479283-A-G
gnomAD v4: 19-16479283-A-G
MyVariant Identifiers: chr19:g.16590094A>G (hg19) chr19:g.16479283A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.16479283A>G , CM000681.2:g.16479283A>G GRCh38
NC_000019.9:g.16590094A>G , CM000681.1:g.16590094A>G GRCh37
NC_000019.8:g.16451094A>G NCBI36
NG_031959.2:g.153922T>C , LRG_422:g.153922T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000269881.8:c.1012-9T>C MANE Select ENSP00000269881.3:n.1012-9T>C
ENST00000269881.7:c.1012-9T>C ENSP00000269881.2:n.1012-9T>C
ENST00000409035.1:c.*815-9T>C ENSP00000386951.2:n.*815-9T>C
NM_145046.4:c.1012-9T>C , LRG_422t1:c.1012-9T>C NP_659483.2:n.1012-9T>C
NM_145046.5:c.1012-9T>C MANE Select NP_659483.2:n.1012-9T>C
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