Canonical Allele Identifier: CA170518

Gene: STING1

Linked Data

• ClinVar Variation Id: 143863
• ClinVar RCV Id: RCV000133402
• dbSNP Id: rs587777611
• MyVariant Identifiers: chr5:g.138860456C>G (hg19) ; chr5:g.139480871C>G (hg38)
• PubMed: PMID:25029335

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.139480871C>G , CM000667.2:g.139480871C>G	GRCh38
NC_000005.9:g.138860456C>G , CM000667.1:g.138860456C>G	GRCh37
NC_000005.8:g.138840640C>G	NCBI36
NG_034249.1:g.6920G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000330794.9:c.439G>C MANE Select	ENSP00000331288.4:p.Val147Leu
ENST00000502362.2:n.1214G>C
ENST00000510817.2:c.439G>C	ENSP00000427455.2:p.Val147Leu
ENST00000511886.6:n.1381G>C
ENST00000512606.6:n.675G>C
ENST00000514119.6:n.658G>C
ENST00000650883.1:c.82G>C	ENSP00000499142.1:p.Val28Leu
ENST00000651565.1:c.82G>C	ENSP00000498768.1:p.Val28Leu
ENST00000651699.1:c.439G>C	ENSP00000499166.1:p.Val147Leu
ENST00000652110.1:c.439G>C	ENSP00000498513.1:p.Val147Leu
ENST00000652271.1:c.439G>C	ENSP00000498596.1:p.Val147Leu
ENST00000652543.1:c.82G>C	ENSP00000498683.1:p.Val28Leu
ENST00000330794.8:c.439G>C	ENSP00000331288.4:p.Val147Leu
ENST00000502825.1:n.217G>C
ENST00000503287.5:n.331G>C
ENST00000503838.1:n.479G>C
ENST00000507297.5:n.1076G>C
ENST00000509573.5:n.238G>C
ENST00000510817.1:c.439G>C	ENSP00000427455.1:p.Val147Leu
ENST00000511850.1:n.661G>C
ENST00000511886.5:n.445G>C
ENST00000512606.5:n.364G>C
ENST00000514119.5:n.876G>C
ENST00000515507.5:n.486-1G>C
NM_001301738.1:c.439G>C	NP_001288667.1:p.Val147Leu
NM_198282.3:c.439G>C	NP_938023.1:p.Val147Leu
XM_005268445.2:c.439G>C	XP_005268502.1:p.Val147Leu
XM_011537639.1:c.439G>C	XP_011535941.1:p.Val147Leu
XM_011537640.1:c.82G>C	XP_011535942.1:p.Val28Leu
XM_005268445.4:c.439G>C	XP_005268502.1:p.Val147Leu
XM_011537639.3:c.439G>C	XP_011535941.1:p.Val147Leu
XM_011537640.2:c.82G>C	XP_011535942.1:p.Val28Leu
NM_001301738.2:c.439G>C	NP_001288667.1:p.Val147Leu
NM_001367258.1:c.82G>C	NP_001354187.1:p.Val28Leu
NM_198282.4:c.439G>C MANE Select	NP_938023.1:p.Val147Leu