Canonical Allele Identifier: CA3435506

Gene: STING1

Linked Data

• ClinVar Variation Id: 541983
• ClinVar RCV Id: RCV000762166 ; RCV001080030 ; RCV002263913 ; RCV003905771 ; RCV004025853
• dbSNP Id: rs140011636
• ExAC: 5:138861229 C / T
• gnomAD v2: 5-138861229-C-T
• gnomAD v3: 5-139481644-C-T
• gnomAD v4: 5-139481644-C-T
• MyVariant Identifiers: chr5:g.138861229C>T (hg19) ; chr5:g.139481644C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.139481644C>T , CM000667.2:g.139481644C>T	GRCh38
NC_000005.9:g.138861229C>T , CM000667.1:g.138861229C>T	GRCh37
NC_000005.8:g.138841413C>T	NCBI36
NG_034249.1:g.6147G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000330794.9:c.61G>A MANE Select	ENSP00000331288.4:p.Ala21Thr
ENST00000502362.2:n.701G>A
ENST00000510817.2:c.61G>A	ENSP00000427455.2:p.Ala21Thr
ENST00000511886.6:n.868G>A
ENST00000512606.6:n.162G>A
ENST00000514119.6:n.145G>A
ENST00000650883.1:c.-203-94G>A	ENSP00000499142.1:n.-203-94G>A
ENST00000651565.1:c.-130-302G>A	ENSP00000498768.1:n.-130-302G>A
ENST00000651699.1:c.61G>A	ENSP00000499166.1:p.Ala21Thr
ENST00000652110.1:c.61G>A	ENSP00000498513.1:p.Ala21Thr
ENST00000652271.1:c.61G>A	ENSP00000498596.1:p.Ala21Thr
ENST00000652543.1:c.-130-302G>A	ENSP00000498683.1:n.-130-302G>A
ENST00000330794.8:c.61G>A	ENSP00000331288.4:p.Ala21Thr
ENST00000502362.1:n.162G>A
ENST00000507297.5:n.303G>A
ENST00000510817.1:c.61G>A	ENSP00000427455.1:p.Ala21Thr
ENST00000511850.1:n.148G>A
ENST00000511886.5:n.234-302G>A
ENST00000514119.5:n.363G>A
ENST00000514348.1:n.480G>A
ENST00000515507.5:n.162G>A
NM_001301738.1:c.61G>A	NP_001288667.1:p.Ala21Thr
NM_198282.3:c.61G>A	NP_938023.1:p.Ala21Thr
XM_005268445.2:c.61G>A	XP_005268502.1:p.Ala21Thr
XM_011537639.1:c.61G>A	XP_011535941.1:p.Ala21Thr
XM_011537640.1:c.-130-302G>A	XP_011535942.1:n.-130-302G>A
XM_005268445.4:c.61G>A	XP_005268502.1:p.Ala21Thr
XM_011537639.3:c.61G>A	XP_011535941.1:p.Ala21Thr
XM_011537640.2:c.-130-302G>A	XP_011535942.1:n.-130-302G>A
NM_001301738.2:c.61G>A	NP_001288667.1:p.Ala21Thr
NM_001367258.1:c.-130-302G>A	NP_001354187.1:n.-130-302G>A
NM_198282.4:c.61G>A MANE Select	NP_938023.1:p.Ala21Thr