Canonical Allele Identifier: CA684498662
Gene: ORAI1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2926484
ClinVar RCV Id: RCV003788722
dbSNP Id: rs782346907
gnomAD v3: 12-121626927-C-T
gnomAD v4: 12-121626927-C-T
MyVariant Identifiers: chr12:g.121626927C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.121626927C>T , CM000674.2:g.121626927C>T GRCh38
NC_000012.10:g.120549216C>T NCBI36
NG_007500.1:g.5353C>T , LRG_93:g.5353C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000698901.1:n.419C>T
ENST00000617316.2:c.180C>T ENSP00000482568.2:p.Tyr60=
ENST00000646827.1:n.378C>T
ENST00000611718.1:c.-10C>T ENSP00000477953.1:n.-10C>T
ENST00000616379.1:c.180C>T ENSP00000480616.1:p.Tyr60=
ENST00000617316.1:c.-10C>T ENSP00000482568.1:n.-10C>T
NM_032790.3:c.180C>T , LRG_93t1:c.180C>T NP_116179.2:p.Tyr60=
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