Canonical Allele Identifier: CA244608529

Gene: ORAI1

Linked Data

• ClinVar Variation Id: 1040490
• ClinVar RCV Id: RCV001344147
• dbSNP Id: rs782424304
• gnomAD v3: 12-121626941-G-T
• gnomAD v4: 12-121626941-G-T
• MyVariant Identifiers: chr12:g.121626941G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.121626941G>T , CM000674.2:g.121626941G>T	GRCh38
NC_000012.10:g.120549230G>T	NCBI36
NG_007500.1:g.5367G>T , LRG_93:g.5367G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000698901.1:n.425+8G>T
ENST00000617316.2:c.194G>T	ENSP00000482568.2:p.Ser65Ile
ENST00000646827.1:n.392G>T
ENST00000611718.1:c.5G>T	ENSP00000477953.1:p.Ser2Ile
ENST00000616379.1:c.194G>T	ENSP00000480616.1:p.Ser65Ile
ENST00000617316.1:c.5G>T	ENSP00000482568.1:p.Ser2Ile
NM_032790.3:c.194G>T , LRG_93t1:c.194G>T	NP_116179.2:p.Ser65Ile