Canonical Allele Identifier: CA404604871
Gene: CALR3 HGNC NCBI

Linked Data

ClinVar Variation Id: 471788
ClinVar RCV Id: RCV000549366
dbSNP Id: rs1555775532
gnomAD v4: 19-16479166-A-C
MyVariant Identifiers: chr19:g.16589977A>C (hg19) chr19:g.16479166A>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.16479166A>C , CM000681.2:g.16479166A>C GRCh38
NC_000019.9:g.16589977A>C , CM000681.1:g.16589977A>C GRCh37
NC_000019.8:g.16450977A>C NCBI36
NG_031959.2:g.154039T>G , LRG_422:g.154039T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000269881.8:c.1120T>G MANE Select ENSP00000269881.3:p.Tyr374Asp
ENST00000269881.7:c.1120T>G ENSP00000269881.2:p.Tyr374Asp
ENST00000409035.1:c.*923T>G ENSP00000386951.2:n.*923T>G
NM_145046.4:c.1120T>G , LRG_422t1:c.1120T>G NP_659483.2:p.Tyr374Asp
NM_145046.5:c.1120T>G MANE Select NP_659483.2:p.Tyr374Asp
Search 100 bp 5'
Search 100 bp 3'