Canonical Allele Identifier: CA9278167

Gene: CALR3

Linked Data

• ClinVar Variation Id: 410622
• ClinVar RCV Id: RCV000459812
• dbSNP Id: rs140440387
• ExAC: 19:16589983 C / T
• gnomAD v2: 19-16589983-C-T
• gnomAD v3: 19-16479172-C-T
• gnomAD v4: 19-16479172-C-T
• MyVariant Identifiers: chr19:g.16589983C>T (hg19) ; chr19:g.16479172C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.16479172C>T , CM000681.2:g.16479172C>T	GRCh38
NC_000019.9:g.16589983C>T , CM000681.1:g.16589983C>T	GRCh37
NC_000019.8:g.16450983C>T	NCBI36
NG_031959.2:g.154033G>A , LRG_422:g.154033G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000269881.8:c.1114G>A MANE Select	ENSP00000269881.3:p.Glu372Lys
ENST00000269881.7:c.1114G>A	ENSP00000269881.2:p.Glu372Lys
ENST00000409035.1:c.*917G>A	ENSP00000386951.2:n.*917G>A
NM_145046.4:c.1114G>A , LRG_422t1:c.1114G>A	NP_659483.2:p.Glu372Lys
NM_145046.5:c.1114G>A MANE Select	NP_659483.2:p.Glu372Lys