Canonical Allele Identifier: CA1316269862

Gene: STAT1

Linked Data

• dbSNP Id: rs6718902

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.190973478C>G , CM000664.2:g.190973478C>G	GRCh38
NC_000002.11:g.191838204C>G , CM000664.1:g.191838204C>G	GRCh37
NC_000002.10:g.191546449C>G	NCBI36
NG_008294.1:g.45773G>C , LRG_111:g.45773G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000698141.1:c.2238+1352G>C	ENSP00000513582.1:n.2238+1352G>C
ENST00000698142.1:c.2178+1352G>C	ENSP00000513583.1:n.2178+1352G>C
ENST00000698143.1:n.4111+1352G>C
ENST00000698144.1:c.*2066+1352G>C	ENSP00000513584.1:n.*2066+1352G>C
ENST00000698145.1:c.634-3729G>C	ENSP00000513585.1:n.634-3729G>C
ENST00000698146.1:c.*2867+1352G>C	ENSP00000513586.1:n.*2867+1352G>C
ENST00000698147.1:n.4637+1352G>C
ENST00000698148.1:n.4967+1352G>C
ENST00000698149.1:c.*543+1352G>C	ENSP00000513587.1:n.*543+1352G>C
ENST00000698150.1:n.3521G>C
ENST00000361099.8:c.2238+1352G>C MANE Select	ENSP00000354394.4:n.2238+1352G>C
ENST00000415035.2:c.2238+1352G>C	ENSP00000388240.2:n.2238+1352G>C
ENST00000423282.2:c.*364+1352G>C	ENSP00000388772.2:n.*364+1352G>C
ENST00000540176.6:c.2238+1352G>C	ENSP00000438703.2:n.2238+1352G>C
ENST00000673734.1:c.*1405+1352G>C	ENSP00000501040.1:n.*1405+1352G>C
ENST00000673762.1:n.737+1352G>C
ENST00000673777.1:c.2232+1352G>C	ENSP00000500982.1:n.2232+1352G>C
ENST00000673816.1:c.2238+1352G>C	ENSP00000501127.1:n.2238+1352G>C
ENST00000673832.1:n.790+1352G>C
ENST00000673847.1:c.2238+1352G>C	ENSP00000501185.1:n.2238+1352G>C
ENST00000673858.1:c.*1564+1352G>C	ENSP00000501196.1:n.*1564+1352G>C
ENST00000673863.1:c.947+1352G>C	ENSP00000501286.1:n.947+1352G>C
ENST00000673942.1:c.2232+1352G>C	ENSP00000501145.1:n.2232+1352G>C
ENST00000674028.1:n.691+1352G>C
ENST00000674080.1:c.*224+1352G>C	ENSP00000501164.1:n.*224+1352G>C
ENST00000674081.1:c.*166+1352G>C	ENSP00000501289.1:n.*166+1352G>C
ENST00000361099.7:c.2238+1352G>C	ENSP00000354394.3:n.2238+1352G>C
ENST00000409465.5:c.2238+1352G>C	ENSP00000386244.1:n.2238+1352G>C
ENST00000415035.1:c.106+1352G>C
ENST00000423282.1:c.341+1352G>C
ENST00000540176.5:c.*1564+1352G>C	ENSP00000438703.1:n.*1564+1352G>C
NM_007315.3:c.2238+1352G>C , LRG_111t1:c.2238+1352G>C	NP_009330.1:n.2238+1352G>C
XM_006712718.1:c.2238+1352G>C	XP_006712781.1:n.2238+1352G>C
XM_017004783.2:c.2244+1352G>C	XP_016860272.1:n.2244+1352G>C
XR_001738914.2:n.3133+1352G>C
XR_001738915.2:n.3075+1352G>C
NM_007315.4:c.2238+1352G>C MANE Select	NP_009330.1:n.2238+1352G>C
NM_001384880.1:c.2178+1352G>C	NP_001371809.1:n.2178+1352G>C
NM_001384881.1:c.2244+1352G>C	NP_001371810.1:n.2244+1352G>C
NM_001384882.1:c.2232+1352G>C	NP_001371811.1:n.2232+1352G>C
NM_001384883.1:c.2139+1352G>C	NP_001371812.1:n.2139+1352G>C
NM_001384884.1:c.2001+1352G>C	NP_001371813.1:n.2001+1352G>C
NM_001384885.1:c.2079+1352G>C	NP_001371814.1:n.2079+1352G>C
NM_001384886.1:c.2262+1352G>C	NP_001371815.1:n.2262+1352G>C
NM_001384887.1:c.2145+1352G>C	NP_001371816.1:n.2145+1352G>C
NM_001384888.1:c.2208+1352G>C	NP_001371817.1:n.2208+1352G>C
NM_001384889.1:c.2226+1352G>C	NP_001371818.1:n.2226+1352G>C
NM_001384890.1:c.2148+1352G>C	NP_001371819.1:n.2148+1352G>C
NM_001384891.1:c.2274+1352G>C	NP_001371820.1:n.2274+1352G>C