Canonical Allele Identifier: CA10613373

Gene: STAT1

Linked Data

• ClinVar Variation Id: 333256
• ClinVar RCV Id: RCV000382172
• dbSNP Id: rs186033487
• gnomAD v2: 2-191834759-A-C
• gnomAD v3: 2-190970033-A-C
• gnomAD v4: 2-190970033-A-C
• MyVariant Identifiers: chr2:g.191834759A>C (hg19) ; chr2:g.190970033A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.190970033A>C , CM000664.2:g.190970033A>C	GRCh38
NC_000002.11:g.191834759A>C , CM000664.1:g.191834759A>C	GRCh37
NC_000002.10:g.191543004A>C	NCBI36
NG_008294.1:g.49218T>G , LRG_111:g.49218T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000698141.1:c.*670T>G	ENSP00000513582.1:n.*670T>G
ENST00000698142.1:c.*670T>G	ENSP00000513583.1:n.*670T>G
ENST00000698143.1:n.4796T>G
ENST00000698144.1:c.*2751T>G	ENSP00000513584.1:n.*2751T>G
ENST00000698145.1:c.634-284T>G	ENSP00000513585.1:n.634-284T>G
ENST00000698146.1:c.*3552T>G	ENSP00000513586.1:n.*3552T>G
ENST00000698147.1:n.5322T>G
ENST00000698148.1:n.5652T>G
ENST00000698149.1:c.*1228T>G	ENSP00000513587.1:n.*1228T>G
ENST00000361099.8:c.*670T>G MANE Select	ENSP00000354394.4:n.*670T>G
ENST00000415035.2:c.*205+465T>G	ENSP00000388240.2:n.*205+465T>G
ENST00000423282.2:c.*1049T>G	ENSP00000388772.2:n.*1049T>G
ENST00000540176.6:c.*670T>G	ENSP00000438703.2:n.*670T>G
ENST00000673734.1:c.*2090T>G	ENSP00000501040.1:n.*2090T>G
ENST00000673762.1:n.1422T>G
ENST00000673777.1:c.*670T>G	ENSP00000500982.1:n.*670T>G
ENST00000673816.1:c.2238+4797T>G	ENSP00000501127.1:n.2238+4797T>G
ENST00000673832.1:n.1475T>G
ENST00000673847.1:c.2238+4797T>G	ENSP00000501185.1:n.2238+4797T>G
ENST00000673858.1:c.*2249T>G	ENSP00000501196.1:n.*2249T>G
ENST00000673863.1:c.1632T>G	ENSP00000501286.1:n.1632T>G
ENST00000673942.1:c.*670T>G	ENSP00000501145.1:n.*670T>G
ENST00000674028.1:n.1376T>G
ENST00000674081.1:c.*851T>G	ENSP00000501289.1:n.*851T>G
ENST00000361099.7:c.*670T>G	ENSP00000354394.3:n.*670T>G
ENST00000415035.1:c.326+465T>G
ENST00000540176.5:c.*2249T>G	ENSP00000438703.1:n.*2249T>G
NM_007315.3:c.*670T>G , LRG_111t1:c.*670T>G	NP_009330.1:n.*670T>G
XM_006712718.1:c.*670T>G	XP_006712781.1:n.*670T>G
XM_017004783.2:c.*670T>G	XP_016860272.1:n.*670T>G
XR_001738914.2:n.3818T>G
XR_001738915.2:n.3760T>G
NM_007315.4:c.*670T>G MANE Select	NP_009330.1:n.*670T>G
NM_001384880.1:c.*670T>G	NP_001371809.1:n.*670T>G
NM_001384881.1:c.*670T>G	NP_001371810.1:n.*670T>G
NM_001384882.1:c.*670T>G	NP_001371811.1:n.*670T>G
NM_001384883.1:c.*670T>G	NP_001371812.1:n.*670T>G
NM_001384884.1:c.*670T>G	NP_001371813.1:n.*670T>G
NM_001384885.1:c.*670T>G	NP_001371814.1:n.*670T>G
NM_001384886.1:c.*670T>G	NP_001371815.1:n.*670T>G
NM_001384887.1:c.*670T>G	NP_001371816.1:n.*670T>G
NM_001384888.1:c.*670T>G	NP_001371817.1:n.*670T>G
NM_001384889.1:c.*670T>G	NP_001371818.1:n.*670T>G
NM_001384890.1:c.*670T>G	NP_001371819.1:n.*670T>G
NM_001384891.1:c.*670T>G	NP_001371820.1:n.*670T>G