Canonical Allele Identifier: CA9278180

Gene: CALR3

Linked Data

• ClinVar Variation Id: 416237
• ClinVar RCV Id: RCV000466260 ; RCV000588378 ; RCV000618856 ; RCV000852750 ; RCV001700127
• dbSNP Id: rs140290452
• ExAC: 19:16590030 C / A
• gnomAD v2: 19-16590030-C-A
• gnomAD v3: 19-16479219-C-A
• gnomAD v4: 19-16479219-C-A
• MyVariant Identifiers: chr19:g.16590030C>A (hg19) ; chr19:g.16479219C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.16479219C>A , CM000681.2:g.16479219C>A	GRCh38
NC_000019.9:g.16590030C>A , CM000681.1:g.16590030C>A	GRCh37
NC_000019.8:g.16451030C>A	NCBI36
NG_031959.2:g.153986G>T , LRG_422:g.153986G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000269881.8:c.1067G>T MANE Select	ENSP00000269881.3:p.Arg356Leu
ENST00000269881.7:c.1067G>T	ENSP00000269881.2:p.Arg356Leu
ENST00000409035.1:c.*870G>T	ENSP00000386951.2:n.*870G>T
NM_145046.4:c.1067G>T , LRG_422t1:c.1067G>T	NP_659483.2:p.Arg356Leu
NM_145046.5:c.1067G>T MANE Select	NP_659483.2:p.Arg356Leu