Canonical Allele Identifier: CA430331130
Gene: STAT1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr2:g.191840567G>T (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.190975841G>T , CM000664.2:g.190975841G>T GRCh38
NC_000002.11:g.191840567G>T , CM000664.1:g.191840567G>T GRCh37
NC_000002.10:g.191548812G>T NCBI36
NG_008294.1:g.43410C>A , LRG_111:g.43410C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000698141.1:c.2106C>A ENSP00000513582.1:p.Ile702=
ENST00000698142.1:c.2046C>A ENSP00000513583.1:p.Ile682=
ENST00000698143.1:n.3979C>A
ENST00000698144.1:c.*1432C>A ENSP00000513584.1:n.*1432C>A
ENST00000698145.1:c.634-6092C>A ENSP00000513585.1:n.634-6092C>A
ENST00000698146.1:c.*1856C>A ENSP00000513586.1:n.*1856C>A
ENST00000698147.1:n.3626C>A
ENST00000698148.1:n.3956C>A
ENST00000698149.1:c.2106C>A ENSP00000513587.1:p.Ile702=
ENST00000698150.1:n.2037C>A
ENST00000361099.8:c.2106C>A MANE Select ENSP00000354394.4:p.Ile702=
ENST00000415035.2:c.2106C>A ENSP00000388240.2:p.Ile702=
ENST00000423282.2:c.*232C>A ENSP00000388772.2:n.*232C>A
ENST00000452281.6:c.*1432C>A ENSP00000394512.1:n.*1432C>A
ENST00000540176.6:c.2106C>A ENSP00000438703.2:p.Ile702=
ENST00000673734.1:c.*1273C>A ENSP00000501040.1:n.*1273C>A
ENST00000673762.1:n.605C>A
ENST00000673777.1:c.2100C>A ENSP00000500982.1:p.Ile700=
ENST00000673816.1:c.2106C>A ENSP00000501127.1:p.Ile702=
ENST00000673832.1:n.658C>A
ENST00000673841.1:c.2106C>A ENSP00000501225.1:p.Ile702=
ENST00000673847.1:c.2106C>A ENSP00000501185.1:p.Ile702=
ENST00000673858.1:c.*1432C>A ENSP00000501196.1:n.*1432C>A
ENST00000673863.1:c.815C>A ENSP00000501286.1:n.815C>A
ENST00000673885.1:c.*292C>A ENSP00000501159.1:n.*292C>A
ENST00000673942.1:c.2100C>A ENSP00000501145.1:p.Ile700=
ENST00000673952.1:c.2106C>A ENSP00000501115.1:p.Ile702=
ENST00000674028.1:n.559C>A
ENST00000674080.1:c.2106C>A ENSP00000501164.1:p.Ile702=
ENST00000674081.1:c.2106C>A ENSP00000501289.1:p.Ile702=
ENST00000674153.1:c.*274C>A ENSP00000501120.1:n.*274C>A
ENST00000361099.7:c.2106C>A ENSP00000354394.3:p.Ile702=
ENST00000392322.7:c.2106C>A ENSP00000376136.3:p.Ile702=
ENST00000392323.6:c.2112C>A ENSP00000376137.2:p.Ile704=
ENST00000409465.5:c.2106C>A ENSP00000386244.1:p.Ile702=
ENST00000423282.1:c.130C>A
ENST00000452281.5:c.*1432C>A ENSP00000394512.1:n.*1432C>A
ENST00000540176.5:c.*1432C>A ENSP00000438703.1:n.*1432C>A
NM_007315.3:c.2106C>A , LRG_111t1:c.2106C>A NP_009330.1:p.Ile702=
NM_139266.2:c.2106C>A NP_644671.1:p.Ile702=
XM_006712718.1:c.2106C>A XP_006712781.1:p.Ile702=
XM_017004783.2:c.2112C>A XP_016860272.1:p.Ile704=
XR_001738914.2:n.2499C>A
XR_001738915.2:n.2441C>A
NM_007315.4:c.2106C>A MANE Select NP_009330.1:p.Ile702=
NM_001384880.1:c.2046C>A NP_001371809.1:p.Ile682=
NM_001384881.1:c.2112C>A NP_001371810.1:p.Ile704=
NM_001384882.1:c.2100C>A NP_001371811.1:p.Ile700=
NM_001384883.1:c.2007C>A NP_001371812.1:p.Ile669=
NM_001384884.1:c.1963-973C>A NP_001371813.1:n.1963-973C>A
NM_001384885.1:c.1947C>A NP_001371814.1:p.Ile649=
NM_001384886.1:c.2130C>A NP_001371815.1:p.Ile710=
NM_001384887.1:c.2013C>A NP_001371816.1:p.Ile671=
NM_001384888.1:c.2076C>A NP_001371817.1:p.Ile692=
NM_001384889.1:c.2106C>A NP_001371818.1:p.Ile702=
NM_001384890.1:c.2016C>A NP_001371819.1:p.Ile672=
NM_001384891.1:c.2142C>A NP_001371820.1:p.Ile714=
NM_139266.3:c.2106C>A NP_644671.1:p.Ile702=