Canonical Allele Identifier: CA2578423553

Gene: STING1

Linked Data

• gnomAD v4: 5-139480768-G-T

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.139480768G>T , CM000667.2:g.139480768G>T	GRCh38
NC_000005.9:g.138860353G>T , CM000667.1:g.138860353G>T	GRCh37
NC_000005.8:g.138840537G>T	NCBI36
NG_034249.1:g.7023C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000330794.9:c.520+22C>A MANE Select	ENSP00000331288.4:n.520+22C>A
ENST00000502362.2:n.1295+22C>A
ENST00000510817.2:c.520+22C>A	ENSP00000427455.2:n.520+22C>A
ENST00000511886.6:n.1462+22C>A
ENST00000512606.6:n.756+22C>A
ENST00000514119.6:n.739+22C>A
ENST00000650883.1:c.163+22C>A	ENSP00000499142.1:n.163+22C>A
ENST00000651565.1:c.163+22C>A	ENSP00000498768.1:n.163+22C>A
ENST00000651699.1:c.520+22C>A	ENSP00000499166.1:n.520+22C>A
ENST00000652110.1:c.520+22C>A	ENSP00000498513.1:n.520+22C>A
ENST00000652271.1:c.520+22C>A	ENSP00000498596.1:n.520+22C>A
ENST00000652543.1:c.163+22C>A	ENSP00000498683.1:n.163+22C>A
ENST00000330794.8:c.520+22C>A	ENSP00000331288.4:n.520+22C>A
ENST00000502825.1:n.298+22C>A
ENST00000503287.5:n.412+22C>A
ENST00000503838.1:n.560+22C>A
ENST00000507297.5:n.1157+22C>A
ENST00000509573.5:n.319+22C>A
ENST00000510817.1:c.520+22C>A	ENSP00000427455.1:n.520+22C>A
ENST00000511850.1:n.742+22C>A
ENST00000511886.5:n.526+22C>A
ENST00000512606.5:n.445+22C>A
ENST00000514119.5:n.957+22C>A
ENST00000515507.5:n.566+22C>A
NM_001301738.1:c.520+22C>A	NP_001288667.1:n.520+22C>A
NM_198282.3:c.520+22C>A	NP_938023.1:n.520+22C>A
XM_005268445.2:c.520+22C>A	XP_005268502.1:n.520+22C>A
XM_011537639.1:c.520+22C>A	XP_011535941.1:n.520+22C>A
XM_011537640.1:c.163+22C>A	XP_011535942.1:n.163+22C>A
XM_005268445.4:c.520+22C>A	XP_005268502.1:n.520+22C>A
XM_011537639.3:c.520+22C>A	XP_011535941.1:n.520+22C>A
XM_011537640.2:c.163+22C>A	XP_011535942.1:n.163+22C>A
NM_001301738.2:c.520+22C>A	NP_001288667.1:n.520+22C>A
NM_001367258.1:c.163+22C>A	NP_001354187.1:n.163+22C>A
NM_198282.4:c.520+22C>A MANE Select	NP_938023.1:n.520+22C>A