Canonical Allele Identifier: CA129527

Gene: CALR3

Linked Data

• ClinVar Variation Id: 30907
• ClinVar RCV Id: RCV000023894 ; RCV000157136 ; RCV000172523 ; RCV000857965
• dbSNP Id: rs142951029
• ExAC: 19:16601330 T / C
• gnomAD v2: 19-16601330-T-C
• gnomAD v3: 19-16490519-T-C
• gnomAD v4: 19-16490519-T-C
• MyVariant Identifiers: chr19:g.16601330T>C (hg19) ; chr19:g.16490519T>C (hg38)
• PubMed: PMID:17655857 ; PMID:23861362

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.16490519T>C , CM000681.2:g.16490519T>C	GRCh38
NC_000019.9:g.16601330T>C , CM000681.1:g.16601330T>C	GRCh37
NC_000019.8:g.16462330T>C	NCBI36
NG_031959.2:g.142686A>G , LRG_422:g.142686A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000269881.8:c.245A>G MANE Select	ENSP00000269881.3:p.Lys82Arg
ENST00000269881.7:c.245A>G	ENSP00000269881.2:p.Lys82Arg
ENST00000409035.1:c.*481+5232A>G	ENSP00000386951.2:n.*481+5232A>G
ENST00000600762.1:c.183+5232A>G
NM_145046.4:c.245A>G , LRG_422t1:c.245A>G	NP_659483.2:p.Lys82Arg
NM_145046.5:c.245A>G MANE Select	NP_659483.2:p.Lys82Arg