Canonical Allele Identifier: CA357939

Gene: STAT3

Linked Data

• ClinVar Variation Id: 224848
• ClinVar RCV Id: RCV000210415 ; RCV000224259 ; RCV000653278
• dbSNP Id: rs869312892
• MyVariant Identifiers: chr17:g.40468917G>A (hg19) ; chr17:g.42316899G>A (hg38)
• PubMed: PMID:25038750 ; PMID:25359994

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.42316899G>A , CM000679.2:g.42316899G>A	GRCh38
NC_000017.10:g.40468917G>A , CM000679.1:g.40468917G>A	GRCh37
NC_000017.9:g.37722443G>A	NCBI36
NG_007370.1:g.76597C>T , LRG_112:g.76597C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000713583.1:c.2147C>T	ENSP00000518875.1:p.Thr716Met
ENST00000264657.10:c.2147C>T MANE Select	ENSP00000264657.4:p.Thr716Met
ENST00000462286.3:n.233-48C>T
ENST00000491272.2:n.264C>T
ENST00000676636.1:c.*534-48C>T	ENSP00000504255.1:n.*534-48C>T
ENST00000677002.1:c.2117C>T	ENSP00000503742.1:p.Thr706Met
ENST00000677030.1:c.2145-48C>T	ENSP00000503662.1:n.2145-48C>T
ENST00000677152.1:c.2142-10C>T	ENSP00000502874.1:n.2142-10C>T
ENST00000677271.1:c.*533-48C>T	ENSP00000503912.1:n.*533-48C>T
ENST00000677308.1:c.*491-48C>T	ENSP00000503059.1:n.*491-48C>T
ENST00000677346.1:n.423C>T
ENST00000677421.1:c.2243C>T	ENSP00000503599.1:p.Thr748Met
ENST00000677442.1:c.2120C>T	ENSP00000504350.1:p.Thr707Met
ENST00000677479.1:c.2142-48C>T	ENSP00000503559.1:n.2142-48C>T
ENST00000677500.1:n.262-48C>T
ENST00000677603.1:c.2099-48C>T	ENSP00000504324.1:n.2099-48C>T
ENST00000677723.1:c.2144C>T	ENSP00000503574.1:p.Thr715Met
ENST00000677763.1:n.2627C>T
ENST00000677820.1:c.*537-48C>T	ENSP00000504715.1:n.*537-48C>T
ENST00000678043.1:c.2126C>T	ENSP00000503872.1:p.Thr709Met
ENST00000678044.1:c.2147C>T	ENSP00000503102.1:p.Thr716Met
ENST00000678048.1:c.2063C>T	ENSP00000503799.1:p.Thr688Met
ENST00000678445.1:c.*539C>T	ENSP00000503105.1:n.*539C>T
ENST00000678535.1:c.2099-48C>T	ENSP00000504081.1:n.2099-48C>T
ENST00000678572.1:c.2160-48C>T	ENSP00000504182.1:n.2160-48C>T
ENST00000678674.1:c.2048C>T	ENSP00000504062.1:p.Thr683Met
ENST00000678764.1:n.2564C>T
ENST00000678792.1:c.2162C>T	ENSP00000504435.1:p.Thr721Met
ENST00000678827.1:c.2145-48C>T	ENSP00000503634.1:n.2145-48C>T
ENST00000678905.1:c.2157-48C>T	ENSP00000503333.1:n.2157-48C>T
ENST00000678906.1:c.2147C>T	ENSP00000504184.1:p.Thr716Met
ENST00000678913.1:c.2162C>T	ENSP00000504609.1:p.Thr721Met
ENST00000678960.1:c.2147C>T	ENSP00000503181.1:p.Thr716Met
ENST00000679014.1:c.2144C>T	ENSP00000503237.1:p.Thr715Met
ENST00000679166.1:c.2063C>T	ENSP00000503308.1:p.Thr688Met
ENST00000679185.1:c.2142-48C>T	ENSP00000503332.1:n.2142-48C>T
ENST00000679231.1:n.2390C>T
ENST00000264657.9:c.2147C>T	ENSP00000264657.4:p.Thr716Met
ENST00000389272.7:c.1853C>T	ENSP00000373923.3:p.Thr618Met
ENST00000404395.3:c.2144C>T	ENSP00000384943.3:p.Thr715Met
ENST00000462269.1:n.384C>T
ENST00000491272.1:n.325C>T
ENST00000585517.5:c.2145-48C>T	ENSP00000467000.1:n.2145-48C>T
ENST00000588969.5:c.2147C>T	ENSP00000467985.1:p.Thr716Met
NM_003150.3:c.2144C>T	NP_003141.2:p.Thr715Met
NM_139276.2:c.2147C>T , LRG_112t1:c.2147C>T	NP_644805.1:p.Thr716Met
NM_213662.1:c.2145-48C>T	NP_998827.1:n.2145-48C>T
XM_005257616.2:c.2144C>T	XP_005257673.2:p.Thr715Met
XM_005257617.2:c.2147C>T	XP_005257674.2:p.Thr716Met
XM_011525145.1:c.2147C>T	XP_011523447.1:p.Thr716Met
XM_011525146.1:c.2145-48C>T	XP_011523448.1:n.2145-48C>T
XM_005257616.4:c.2144C>T	XP_005257673.2:p.Thr715Met
XM_005257617.3:c.2147C>T	XP_005257674.2:p.Thr716Met
XM_011525145.3:c.2147C>T	XP_011523447.1:p.Thr716Met
XM_011525146.3:c.2145-48C>T	XP_011523448.1:n.2145-48C>T
XM_017024972.1:c.2145-48C>T	XP_016880461.1:n.2145-48C>T
XM_017024973.2:c.2142-48C>T	XP_016880462.1:n.2142-48C>T
XM_017024974.1:c.2142-48C>T	XP_016880463.1:n.2142-48C>T
XM_017024975.1:c.2144C>T	XP_016880464.1:p.Thr715Met
XM_017024976.1:c.2142-48C>T	XP_016880465.1:n.2142-48C>T
XM_024450896.1:c.2243C>T	XP_024306664.1:p.Thr748Met
NM_001369512.1:c.2147C>T	NP_001356441.1:p.Thr716Met
NM_001369513.1:c.2147C>T	NP_001356442.1:p.Thr716Met
NM_001369514.1:c.2144C>T	NP_001356443.1:p.Thr715Met
NM_001369516.1:c.2144C>T	NP_001356445.1:p.Thr715Met
NM_001369517.1:c.2145-48C>T	NP_001356446.1:n.2145-48C>T
NM_001369518.1:c.2145-48C>T	NP_001356447.1:n.2145-48C>T
NM_001369519.1:c.2142-48C>T	NP_001356448.1:n.2142-48C>T
NM_001369520.1:c.2142-48C>T	NP_001356449.1:n.2142-48C>T
NM_003150.4:c.2144C>T	NP_003141.2:p.Thr715Met
NM_213662.2:c.2145-48C>T	NP_998827.1:n.2145-48C>T
NM_001384984.1:c.2063C>T	NP_001371913.1:p.Thr688Met
NM_001384985.1:c.2069C>T	NP_001371914.1:p.Thr690Met
NM_001384986.1:c.2157-48C>T	NP_001371915.1:n.2157-48C>T
NM_001384987.1:c.2126C>T	NP_001371916.1:p.Thr709Met
NM_001384988.1:c.2099-48C>T	NP_001371917.1:n.2099-48C>T
NM_001384989.1:c.2048C>T	NP_001371918.1:p.Thr683Met
NM_001384990.1:c.2160-48C>T	NP_001371919.1:n.2160-48C>T
NM_001384991.1:c.2120C>T	NP_001371920.1:p.Thr707Met
NM_001384992.1:c.2087C>T	NP_001371921.1:p.Thr696Met
NM_001384993.1:c.2145-10C>T	NP_001371922.1:n.2145-10C>T
NM_139276.3:c.2147C>T MANE Select	NP_644805.1:p.Thr716Met