Canonical Allele Identifier: CA386981386

Gene: ORAI1

Linked Data

• ClinVar Variation Id: 2156524
• ClinVar RCV Id: RCV003090938
• gnomAD v4: 12-121627067-C-T
• MyVariant Identifiers: chr12:g.122064973C>T (hg19) ; chr12:g.121627067C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.121627067C>T , CM000674.2:g.121627067C>T	GRCh38
NC_000012.11:g.122064973C>T , CM000674.1:g.122064973C>T	GRCh37
NC_000012.10:g.120549356C>T	NCBI36
NG_007500.1:g.5493C>T , LRG_93:g.5493C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000698901.1:n.425+134C>T
ENST00000617316.2:c.303+17C>T	ENSP00000482568.2:n.303+17C>T
ENST00000646827.1:n.501+17C>T
ENST00000611718.1:c.131C>T	ENSP00000477953.1:p.Pro44Leu
ENST00000616379.1:c.303+17C>T	ENSP00000480616.1:n.303+17C>T
ENST00000617316.1:c.114+17C>T	ENSP00000482568.1:n.114+17C>T
NM_032790.3:c.303+17C>T , LRG_93t1:c.303+17C>T	NP_116179.2:n.303+17C>T