Canonical Allele Identifier: CA9278261

Gene: CALR3

Linked Data

• ClinVar Variation Id: 471795
• ClinVar RCV Id: RCV000539617 ; RCV004024185
• dbSNP Id: rs543953490
• ExAC: 19:16593347 G / A
• gnomAD v2: 19-16593347-G-A
• gnomAD v3: 19-16482536-G-A
• gnomAD v4: 19-16482536-G-A
• COSMIC: COSM329218
• MyVariant Identifiers: chr19:g.16593347G>A (hg19) ; chr19:g.16482536G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.16482536G>A , CM000681.2:g.16482536G>A	GRCh38
NC_000019.9:g.16593347G>A , CM000681.1:g.16593347G>A	GRCh37
NC_000019.8:g.16454347G>A	NCBI36
NG_031959.2:g.150669C>T , LRG_422:g.150669C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000269881.8:c.832C>T MANE Select	ENSP00000269881.3:p.Arg278Cys
ENST00000269881.7:c.832C>T	ENSP00000269881.2:p.Arg278Cys
ENST00000409035.1:c.*635C>T	ENSP00000386951.2:n.*635C>T
ENST00000602234.1:n.506C>T
NM_145046.4:c.832C>T , LRG_422t1:c.832C>T	NP_659483.2:p.Arg278Cys
NM_145046.5:c.832C>T MANE Select	NP_659483.2:p.Arg278Cys