Canonical Allele Identifier: CA3435228

Gene: STING1

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.139476277C>T , CM000667.2:g.139476277C>T	GRCh38
NC_000005.9:g.138855862C>T , CM000667.1:g.138855862C>T	GRCh37
NC_000005.8:g.138836046C>T	NCBI36
NG_034249.1:g.11514G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_198282.4:c.1124G>A MANE Select	NP_938023.1:p.Arg375His
ENST00000330794.9:c.1124G>A MANE Select	ENSP00000331288.4:p.Arg375His
NM_001301738.1:c.*85G>A	NP_001288667.1:n.*85G>A
NM_001301738.2:c.*85G>A	NP_001288667.1:n.*85G>A
NM_001367258.1:c.767G>A	NP_001354187.1:p.Arg256His
NM_198282.3:c.1124G>A	NP_938023.1:p.Arg375His
ENST00000330794.8:c.1124G>A	ENSP00000331288.4:p.Arg375His
ENST00000502362.2:n.1899G>A
ENST00000507297.5:n.2457G>A
ENST00000509573.5:n.736G>A
ENST00000511886.6:n.2230G>A
ENST00000512606.6:n.1360G>A
ENST00000514119.6:n.1156G>A
ENST00000650883.1:c.*541G>A	ENSP00000499142.1:n.*541G>A
ENST00000651565.1:c.767G>A	ENSP00000498768.1:p.Arg256His
ENST00000651699.1:c.1124G>A	ENSP00000499166.1:p.Arg375His
ENST00000652110.1:c.*85G>A	ENSP00000498513.1:n.*85G>A
ENST00000652271.1:c.1124G>A	ENSP00000498596.1:p.Arg375His
ENST00000652293.1:n.1932G>A
ENST00000652543.1:c.*85G>A	ENSP00000498683.1:n.*85G>A
ENST00000652640.1:n.1511G>A
XM_005268445.2:c.*85G>A	XP_005268502.1:n.*85G>A
XM_005268445.4:c.*85G>A	XP_005268502.1:n.*85G>A
XM_011537640.1:c.767G>A	XP_011535942.1:p.Arg256His
XM_011537640.2:c.767G>A	XP_011535942.1:p.Arg256His