Canonical Allele Identifier: CA684498667
Gene: ORAI1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2117233
ClinVar RCV Id: RCV003039099
dbSNP Id: rs1220842609
gnomAD v4: 12-121626930-C-A
MyVariant Identifiers: chr12:g.121626930C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.121626930C>A , CM000674.2:g.121626930C>A GRCh38
NC_000012.10:g.120549219C>A NCBI36
NG_007500.1:g.5356C>A , LRG_93:g.5356C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000698901.1:n.422C>A
ENST00000617316.2:c.183C>A ENSP00000482568.2:p.Ser61=
ENST00000646827.1:n.381C>A
ENST00000611718.1:c.-7C>A ENSP00000477953.1:n.-7C>A
ENST00000616379.1:c.183C>A ENSP00000480616.1:p.Ser61=
ENST00000617316.1:c.-7C>A ENSP00000482568.1:n.-7C>A
NM_032790.3:c.183C>A , LRG_93t1:c.183C>A NP_116179.2:p.Ser61=
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