Canonical Allele Identifier: CA379197278

Gene: STIM1

Linked Data

• ClinVar Variation Id: 2927232
• ClinVar RCV Id: RCV003781422
• gnomAD v4: 11-4091502-C-A
• MyVariant Identifiers: chr11:g.4112732C>A (hg19) ; chr11:g.4091502C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.4091502C>A , CM000673.2:g.4091502C>A	GRCh38
NC_000011.9:g.4112732C>A , CM000673.1:g.4112732C>A	GRCh37
NC_000011.8:g.4069308C>A	NCBI36
NG_016277.1:g.240800C>A , LRG_164:g.240800C>A
NG_027992.2:g.1809C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000525403.6:c.*176C>A	ENSP00000432210.2:n.*176C>A
ENST00000698910.1:c.1273C>A	ENSP00000514024.1:p.His425Asn
ENST00000698911.1:c.1858C>A	ENSP00000514025.1:p.His620Asn
ENST00000698912.1:c.*176C>A	ENSP00000514026.1:n.*176C>A
ENST00000698913.1:c.1540C>A	ENSP00000514027.1:p.His514Asn
ENST00000698915.1:c.1846C>A	ENSP00000514029.1:p.His616Asn
ENST00000698916.1:c.1783C>A	ENSP00000514030.1:p.His595Asn
ENST00000698918.1:c.*1500C>A	ENSP00000514031.1:n.*1500C>A
ENST00000698919.1:c.*695C>A	ENSP00000514032.1:n.*695C>A
ENST00000698920.1:n.1062C>A
ENST00000526596.2:c.1855C>A MANE Select	ENSP00000433266.2:p.His619Asn
ENST00000300737.8:c.1762C>A	ENSP00000300737.4:p.His588Asn
ENST00000526156.1:n.560C>A
ENST00000526596.1:c.1047C>A
ENST00000527651.5:c.*176C>A	ENSP00000436208.1:n.*176C>A
ENST00000533977.5:c.1243C>A	ENSP00000434767.1:p.His415Asn
ENST00000616714.4:c.2080C>A	ENSP00000478059.1:p.His694Asn
NM_001277961.1:c.2080C>A	NP_001264890.1:p.His694Asn
NM_001277962.1:c.*176C>A	NP_001264891.1:n.*176C>A
NM_003156.3:c.1762C>A , LRG_164t1:c.1762C>A	NP_003147.2:p.His588Asn
NM_001277962.2:c.*176C>A	NP_001264891.1:n.*176C>A
NM_001277961.3:c.2080C>A	NP_001264890.1:p.His694Asn
NM_001382566.1:c.1858C>A	NP_001369495.1:p.His620Asn
NM_001382567.1:c.1855C>A MANE Select	NP_001369496.1:p.His619Asn
NM_001382568.1:c.1783C>A	NP_001369497.1:p.His595Asn
NM_001382569.1:c.1627C>A	NP_001369498.1:p.His543Asn
NM_001382570.1:c.1534C>A	NP_001369499.1:p.His512Asn
NM_001382571.1:c.1282C>A	NP_001369500.1:p.His428Asn
NM_001382575.1:c.1540C>A	NP_001369504.1:p.His514Asn
NM_001382576.1:c.1540C>A	NP_001369505.1:p.His514Asn
NM_001382577.1:c.1540C>A	NP_001369506.1:p.His514Asn
NM_001382578.1:c.*176C>A	NP_001369507.1:n.*176C>A
NM_001382579.1:c.*176C>A	NP_001369508.1:n.*176C>A
NM_001382580.1:c.*176C>A	NP_001369509.1:n.*176C>A
NM_001382581.1:c.1273C>A	NP_001369510.1:p.His425Asn
NM_003156.4:c.1762C>A	NP_003147.2:p.His588Asn
NR_168436.1:n.1686C>A
NR_168437.1:n.2191C>A
NR_168438.1:n.2013C>A