Canonical Allele Identifier: CA386980983

Gene: ORAI1

Linked Data

• ClinVar Variation Id: 1434750
• ClinVar RCV Id: RCV001955086
• dbSNP Id: rs1411464557
• gnomAD v3: 12-121626962-A-G
• gnomAD v4: 12-121626962-A-G
• MyVariant Identifiers: chr12:g.121626962A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.121626962A>G , CM000674.2:g.121626962A>G	GRCh38
NC_000012.10:g.120549251A>G	NCBI36
NG_007500.1:g.5388A>G , LRG_93:g.5388A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000698901.1:n.425+29A>G
ENST00000617316.2:c.215A>G	ENSP00000482568.2:p.Gln72Arg
ENST00000646827.1:n.413A>G
ENST00000611718.1:c.26A>G	ENSP00000477953.1:p.Gln9Arg
ENST00000616379.1:c.215A>G	ENSP00000480616.1:p.Gln72Arg
ENST00000617316.1:c.26A>G	ENSP00000482568.1:p.Gln9Arg
NM_032790.3:c.215A>G , LRG_93t1:c.215A>G	NP_116179.2:p.Gln72Arg