Canonical Allele Identifier: CA379197283

Gene: STIM1

Linked Data

• ClinVar Variation Id: 461725
• ClinVar RCV Id: RCV000530795
• dbSNP Id: rs1176059435
• gnomAD v2: 11-4112733-A-G
• gnomAD v3: 11-4091503-A-G
• gnomAD v4: 11-4091503-A-G
• MyVariant Identifiers: chr11:g.4112733A>G (hg19) ; chr11:g.4091503A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.4091503A>G , CM000673.2:g.4091503A>G	GRCh38
NC_000011.9:g.4112733A>G , CM000673.1:g.4112733A>G	GRCh37
NC_000011.8:g.4069309A>G	NCBI36
NG_016277.1:g.240801A>G , LRG_164:g.240801A>G
NG_027992.2:g.1810A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000525403.6:c.*177A>G	ENSP00000432210.2:n.*177A>G
ENST00000698910.1:c.1274A>G	ENSP00000514024.1:p.His425Arg
ENST00000698911.1:c.1859A>G	ENSP00000514025.1:p.His620Arg
ENST00000698912.1:c.*177A>G	ENSP00000514026.1:n.*177A>G
ENST00000698913.1:c.1541A>G	ENSP00000514027.1:p.His514Arg
ENST00000698915.1:c.1847A>G	ENSP00000514029.1:p.His616Arg
ENST00000698916.1:c.1784A>G	ENSP00000514030.1:p.His595Arg
ENST00000698918.1:c.*1501A>G	ENSP00000514031.1:n.*1501A>G
ENST00000698919.1:c.*696A>G	ENSP00000514032.1:n.*696A>G
ENST00000698920.1:n.1063A>G
ENST00000526596.2:c.1856A>G MANE Select	ENSP00000433266.2:p.His619Arg
ENST00000300737.8:c.1763A>G	ENSP00000300737.4:p.His588Arg
ENST00000526156.1:n.561A>G
ENST00000526596.1:c.1048A>G
ENST00000527651.5:c.*177A>G	ENSP00000436208.1:n.*177A>G
ENST00000533977.5:c.1244A>G	ENSP00000434767.1:p.His415Arg
ENST00000616714.4:c.2081A>G	ENSP00000478059.1:p.His694Arg
NM_001277961.1:c.2081A>G	NP_001264890.1:p.His694Arg
NM_001277962.1:c.*177A>G	NP_001264891.1:n.*177A>G
NM_003156.3:c.1763A>G , LRG_164t1:c.1763A>G	NP_003147.2:p.His588Arg
NM_001277962.2:c.*177A>G	NP_001264891.1:n.*177A>G
NM_001277961.3:c.2081A>G	NP_001264890.1:p.His694Arg
NM_001382566.1:c.1859A>G	NP_001369495.1:p.His620Arg
NM_001382567.1:c.1856A>G MANE Select	NP_001369496.1:p.His619Arg
NM_001382568.1:c.1784A>G	NP_001369497.1:p.His595Arg
NM_001382569.1:c.1628A>G	NP_001369498.1:p.His543Arg
NM_001382570.1:c.1535A>G	NP_001369499.1:p.His512Arg
NM_001382571.1:c.1283A>G	NP_001369500.1:p.His428Arg
NM_001382575.1:c.1541A>G	NP_001369504.1:p.His514Arg
NM_001382576.1:c.1541A>G	NP_001369505.1:p.His514Arg
NM_001382577.1:c.1541A>G	NP_001369506.1:p.His514Arg
NM_001382578.1:c.*177A>G	NP_001369507.1:n.*177A>G
NM_001382579.1:c.*177A>G	NP_001369508.1:n.*177A>G
NM_001382580.1:c.*177A>G	NP_001369509.1:n.*177A>G
NM_001382581.1:c.1274A>G	NP_001369510.1:p.His425Arg
NM_003156.4:c.1763A>G	NP_003147.2:p.His588Arg
NR_168436.1:n.1687A>G
NR_168437.1:n.2192A>G
NR_168438.1:n.2014A>G