Canonical Allele Identifier: CA6837408

Gene: ORAI1

Linked Data

• ClinVar Variation Id: 541941
• ClinVar RCV Id: RCV000652295 ; RCV000836176 ; RCV001336793
• dbSNP Id: rs781829024
• ExAC: 12:122064747 A / C
• gnomAD v2: 12-122064747-A-C
• gnomAD v3: 12-121626842-A-C
• gnomAD v4: 12-121626842-A-C
• MyVariant Identifiers: chr12:g.122064747A>C (hg19) ; chr12:g.121626842A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.121626842A>C , CM000674.2:g.121626842A>C	GRCh38
NC_000012.11:g.122064747A>C , CM000674.1:g.122064747A>C	GRCh37
NC_000012.10:g.120549130A>C	NCBI36
NG_007500.1:g.5273A>C , LRG_93:g.5273A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000698901.1:n.334A>C
ENST00000617316.2:c.100A>C	ENSP00000482568.2:p.Ser34Arg
ENST00000646827.1:n.293A>C
ENST00000611718.1:c.-95A>C	ENSP00000477953.1:n.-95A>C
ENST00000616379.1:c.100A>C	ENSP00000480616.1:p.Ser34Arg
ENST00000617316.1:c.-95A>C	ENSP00000482568.1:n.-95A>C
NM_032790.3:c.100A>C , LRG_93t1:c.100A>C	NP_116179.2:p.Ser34Arg