Canonical Allele Identifier: CA379197280

Gene: STIM1

Linked Data

• gnomAD v4: 11-4091502-C-G
• MyVariant Identifiers: chr11:g.4112732C>G (hg19) ; chr11:g.4091502C>G (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000525403.6:c.*176C>G	ENSP00000432210.2:n.*176C>G
ENST00000698910.1:c.1273C>G	ENSP00000514024.1:p.His425Asp
ENST00000698911.1:c.1858C>G	ENSP00000514025.1:p.His620Asp
ENST00000698912.1:c.*176C>G	ENSP00000514026.1:n.*176C>G
ENST00000698913.1:c.1540C>G	ENSP00000514027.1:p.His514Asp
ENST00000698915.1:c.1846C>G	ENSP00000514029.1:p.His616Asp
ENST00000698916.1:c.1783C>G	ENSP00000514030.1:p.His595Asp
ENST00000698918.1:c.*1500C>G	ENSP00000514031.1:n.*1500C>G
ENST00000698919.1:c.*695C>G	ENSP00000514032.1:n.*695C>G
ENST00000698920.1:n.1062C>G
ENST00000526596.2:c.1855C>G MANE Select	ENSP00000433266.2:p.His619Asp
ENST00000300737.8:c.1762C>G	ENSP00000300737.4:p.His588Asp
ENST00000526156.1:n.560C>G
ENST00000526596.1:c.1047C>G
ENST00000527651.5:c.*176C>G	ENSP00000436208.1:n.*176C>G
ENST00000533977.5:c.1243C>G	ENSP00000434767.1:p.His415Asp
ENST00000616714.4:c.2080C>G	ENSP00000478059.1:p.His694Asp
NM_001277961.1:c.2080C>G	NP_001264890.1:p.His694Asp
NM_001277962.1:c.*176C>G	NP_001264891.1:n.*176C>G
NM_003156.3:c.1762C>G , LRG_164t1:c.1762C>G	NP_003147.2:p.His588Asp
NM_001277962.2:c.*176C>G	NP_001264891.1:n.*176C>G
NM_001277961.3:c.2080C>G	NP_001264890.1:p.His694Asp
NM_001382566.1:c.1858C>G	NP_001369495.1:p.His620Asp
NM_001382567.1:c.1855C>G MANE Select	NP_001369496.1:p.His619Asp
NM_001382568.1:c.1783C>G	NP_001369497.1:p.His595Asp
NM_001382569.1:c.1627C>G	NP_001369498.1:p.His543Asp
NM_001382570.1:c.1534C>G	NP_001369499.1:p.His512Asp
NM_001382571.1:c.1282C>G	NP_001369500.1:p.His428Asp
NM_001382575.1:c.1540C>G	NP_001369504.1:p.His514Asp
NM_001382576.1:c.1540C>G	NP_001369505.1:p.His514Asp
NM_001382577.1:c.1540C>G	NP_001369506.1:p.His514Asp
NM_001382578.1:c.*176C>G	NP_001369507.1:n.*176C>G
NM_001382579.1:c.*176C>G	NP_001369508.1:n.*176C>G
NM_001382580.1:c.*176C>G	NP_001369509.1:n.*176C>G
NM_001382581.1:c.1273C>G	NP_001369510.1:p.His425Asp
NM_003156.4:c.1762C>G	NP_003147.2:p.His588Asp
NR_168436.1:n.1686C>G
NR_168437.1:n.2191C>G
NR_168438.1:n.2013C>G