Canonical Allele Identifier: CA3435388

Gene: STING1

Linked Data

• dbSNP Id: rs576766239
• ExAC: 5:138860345 C / T
• gnomAD v2: 5-138860345-C-T
• gnomAD v3: 5-139480760-C-T
• gnomAD v4: 5-139480760-C-T
• MyVariant Identifiers: chr5:g.138860345C>T (hg19) ; chr5:g.139480760C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.139480760C>T , CM000667.2:g.139480760C>T	GRCh38
NC_000005.9:g.138860345C>T , CM000667.1:g.138860345C>T	GRCh37
NC_000005.8:g.138840529C>T	NCBI36
NG_034249.1:g.7031G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000330794.9:c.520+30G>A MANE Select	ENSP00000331288.4:n.520+30G>A
ENST00000502362.2:n.1295+30G>A
ENST00000510817.2:c.520+30G>A	ENSP00000427455.2:n.520+30G>A
ENST00000511886.6:n.1462+30G>A
ENST00000512606.6:n.756+30G>A
ENST00000514119.6:n.739+30G>A
ENST00000650883.1:c.163+30G>A	ENSP00000499142.1:n.163+30G>A
ENST00000651565.1:c.163+30G>A	ENSP00000498768.1:n.163+30G>A
ENST00000651699.1:c.520+30G>A	ENSP00000499166.1:n.520+30G>A
ENST00000652110.1:c.520+30G>A	ENSP00000498513.1:n.520+30G>A
ENST00000652271.1:c.520+30G>A	ENSP00000498596.1:n.520+30G>A
ENST00000652543.1:c.163+30G>A	ENSP00000498683.1:n.163+30G>A
ENST00000330794.8:c.520+30G>A	ENSP00000331288.4:n.520+30G>A
ENST00000502825.1:n.298+30G>A
ENST00000503287.5:n.412+30G>A
ENST00000503838.1:n.560+30G>A
ENST00000507297.5:n.1157+30G>A
ENST00000509573.5:n.319+30G>A
ENST00000510817.1:c.520+30G>A	ENSP00000427455.1:n.520+30G>A
ENST00000511850.1:n.742+30G>A
ENST00000511886.5:n.526+30G>A
ENST00000512606.5:n.445+30G>A
ENST00000514119.5:n.957+30G>A
ENST00000515507.5:n.566+30G>A
NM_001301738.1:c.520+30G>A	NP_001288667.1:n.520+30G>A
NM_198282.3:c.520+30G>A	NP_938023.1:n.520+30G>A
XM_005268445.2:c.520+30G>A	XP_005268502.1:n.520+30G>A
XM_011537639.1:c.520+30G>A	XP_011535941.1:n.520+30G>A
XM_011537640.1:c.163+30G>A	XP_011535942.1:n.163+30G>A
XM_005268445.4:c.520+30G>A	XP_005268502.1:n.520+30G>A
XM_011537639.3:c.520+30G>A	XP_011535941.1:n.520+30G>A
XM_011537640.2:c.163+30G>A	XP_011535942.1:n.163+30G>A
NM_001301738.2:c.520+30G>A	NP_001288667.1:n.520+30G>A
NM_001367258.1:c.163+30G>A	NP_001354187.1:n.163+30G>A
NM_198282.4:c.520+30G>A MANE Select	NP_938023.1:n.520+30G>A