Canonical Allele Identifier: CA2030605
Gene: STAT4 HGNC NCBI
MyVariant.info:
GRCh38 chr2:g.191039296G>A
GRCh37 chr2:g.191904022G>A
Revel Score:
ENST00000358470 0.589
ENST00000392320 (MANE Select) 0.589
gnomAD v2:
2:191904022 G / A
gnomAD v3:
2:191039296 G / A
gnomAD v4:
chr2-191039296-G-A
Joint Max Group AF 0.00105193 (NFE)
Genomes Max Group AF 0.00108835 (NFE)
Exomes Max Group AF 0.00103808 (NFE)
ClinVar Allele:
1418512
ClinVar RCV:
RCV001928851
RCV003416612
ClinVar Variation:
1423453
dbSNP:
141331848
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.191039296G>A , CM000664.2:g.191039296G>A GRCh38
NC_000002.11:g.191904022G>A , CM000664.1:g.191904022G>A GRCh37
NC_000002.10:g.191612267G>A NCBI36
NG_012852.1:g.116904C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000392320.7:c.1337C>T MANE Select ENSP00000376134.2:p.Thr446Ile
ENST00000358470.8:c.1337C>T ENSP00000351255.4:p.Thr446Ile
ENST00000392320.6:c.1337C>T ENSP00000376134.2:p.Thr446Ile
ENST00000470708.1:n.296C>T
ENST00000495849.5:n.1405C>T
NM_001243835.1:c.1337C>T NP_001230764.1:p.Thr446Ile
NM_003151.3:c.1337C>T NP_003142.1:p.Thr446Ile
XM_005246817.3:c.1364C>T XP_005246874.1:p.Thr455Ile
XM_006712719.2:c.1337C>T XP_006712782.1:p.Thr446Ile
XM_011511704.1:c.1364C>T XP_011510006.1:p.Thr455Ile
XM_011511705.1:c.1337C>T XP_011510007.1:p.Thr446Ile
XM_011511706.1:c.1364C>T XP_011510008.1:p.Thr455Ile
XM_006712719.3:c.1337C>T XP_006712782.1:p.Thr446Ile
XM_011511705.2:c.1337C>T XP_011510007.1:p.Thr446Ile
XM_017004784.2:c.1337C>T XP_016860273.1:p.Thr446Ile
NM_003151.4:c.1337C>T MANE Select NP_003142.1:p.Thr446Ile
NM_001243835.2:c.1337C>T NP_001230764.1:p.Thr446Ile
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