Canonical Allele Identifier: CA386981187

Gene: ORAI1

Linked Data

• ClinVar Variation Id: 2113262
• ClinVar RCV Id: RCV003027236
• dbSNP Id: rs1464356755
• gnomAD v2: 12-122064940-T-C
• gnomAD v3: 12-121627034-T-C
• gnomAD v4: 12-121627034-T-C
• MyVariant Identifiers: chr12:g.122064940T>C (hg19) ; chr12:g.121627034T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.121627034T>C , CM000674.2:g.121627034T>C	GRCh38
NC_000012.11:g.122064940T>C , CM000674.1:g.122064940T>C	GRCh37
NC_000012.10:g.120549323T>C	NCBI36
NG_007500.1:g.5460T>C , LRG_93:g.5460T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000698901.1:n.425+101T>C
ENST00000617316.2:c.287T>C	ENSP00000482568.2:p.Leu96Pro
ENST00000646827.1:n.485T>C
ENST00000611718.1:c.98T>C	ENSP00000477953.1:p.Leu33Pro
ENST00000616379.1:c.287T>C	ENSP00000480616.1:p.Leu96Pro
ENST00000617316.1:c.98T>C	ENSP00000482568.1:p.Leu33Pro
NM_032790.3:c.287T>C , LRG_93t1:c.287T>C	NP_116179.2:p.Leu96Pro