Canonical Allele Identifier: CA404607931
Gene: CALR3 HGNC NCBI

Linked Data

ClinVar Variation Id: 520244
ClinVar RCV Id: RCV000619715 RCV001241673
dbSNP Id: rs1247489343
gnomAD v2: 19-16593346-C-T
gnomAD v3: 19-16482535-C-T
gnomAD v4: 19-16482535-C-T
MyVariant Identifiers: chr19:g.16593346C>T (hg19) chr19:g.16482535C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.16482535C>T , CM000681.2:g.16482535C>T GRCh38
NC_000019.9:g.16593346C>T , CM000681.1:g.16593346C>T GRCh37
NC_000019.8:g.16454346C>T NCBI36
NG_031959.2:g.150670G>A , LRG_422:g.150670G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000269881.8:c.833G>A MANE Select ENSP00000269881.3:p.Arg278His
ENST00000269881.7:c.833G>A ENSP00000269881.2:p.Arg278His
ENST00000409035.1:c.*636G>A ENSP00000386951.2:n.*636G>A
ENST00000602234.1:n.507G>A
NM_145046.4:c.833G>A , LRG_422t1:c.833G>A NP_659483.2:p.Arg278His
NM_145046.5:c.833G>A MANE Select NP_659483.2:p.Arg278His
Search 100 bp 5'
Search 100 bp 3'