Canonical Allele Identifier: CA199990
Gene: CALR3 HGNC NCBI

Linked Data

ClinVar Variation Id: 192182
ClinVar RCV Id: RCV000172741 RCV000429817 RCV000461036 RCV000621757 RCV000852751
dbSNP Id: rs10404156
ExAC: 19:16593329 C / T
gnomAD v2: 19-16593329-C-T
gnomAD v3: 19-16482518-C-T
gnomAD v4: 19-16482518-C-T
COSMIC: COSM2150999
MyVariant Identifiers: chr19:g.16593329C>T (hg19) chr19:g.16482518C>T (hg38)
PubMed: PMID:23861362
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.16482518C>T , CM000681.2:g.16482518C>T GRCh38
NC_000019.9:g.16593329C>T , CM000681.1:g.16593329C>T GRCh37
NC_000019.8:g.16454329C>T NCBI36
NG_031959.2:g.150687G>A , LRG_422:g.150687G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000269881.8:c.850G>A MANE Select ENSP00000269881.3:p.Asp284Asn
ENST00000269881.7:c.850G>A ENSP00000269881.2:p.Asp284Asn
ENST00000409035.1:c.*653G>A ENSP00000386951.2:n.*653G>A
ENST00000602234.1:n.524G>A
NM_145046.4:c.850G>A , LRG_422t1:c.850G>A NP_659483.2:p.Asp284Asn
NM_145046.5:c.850G>A MANE Select NP_659483.2:p.Asp284Asn
Search 100 bp 5'
Search 100 bp 3'