Canonical Allele Identifier: CA162437
Gene: TNFAIP3 HGNC NCBI
MyVariant.info:
Revel Score:
gnomAD v4:

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.137880103A>C , CM000668.2:g.137880103A>C GRCh38
NC_000006.11:g.138201240A>C , CM000668.1:g.138201240A>C GRCh37
NC_000006.10:g.138242933A>C NCBI36
NG_032761.1:g.17660A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000420009.6:c.1939A>C ENSP00000401562.2:p.Thr647Pro
ENST00000711061.1:c.*1662A>C ENSP00000518561.1:n.*1662A>C
ENST00000421450.2:c.1939A>C ENSP00000393577.2:p.Thr647Pro
ENST00000433680.2:c.1939A>C ENSP00000409845.2:p.Thr647Pro
ENST00000485192.2:n.2560A>C
ENST00000698329.1:n.3007A>C
ENST00000612899.5:c.1939A>C MANE Select ENSP00000481570.1:p.Thr647Pro
ENST00000237289.8:c.1939A>C ENSP00000237289.4:p.Thr647Pro
ENST00000612899.4:c.1939A>C ENSP00000481570.1:p.Thr647Pro
ENST00000615468.4:c.*1293A>C ENSP00000479556.1:n.*1293A>C
ENST00000619035.4:c.1939A>C ENSP00000478438.1:p.Thr647Pro
ENST00000620204.3:c.1937A>C ENSP00000481454.1:p.His646Pro
NM_001270507.1:c.1939A>C NP_001257436.1:p.Thr647Pro
NM_001270508.1:c.1939A>C NP_001257437.1:p.Thr647Pro
NM_006290.3:c.1939A>C NP_006281.1:p.Thr647Pro
XM_005267119.1:c.1939A>C XP_005267176.1:p.Thr647Pro
XM_006715555.1:c.1300A>C XP_006715618.1:p.Thr434Pro
XM_011536095.1:c.1939A>C XP_011534397.1:p.Thr647Pro
XM_011536096.1:c.1906+752A>C XP_011534398.1:n.1906+752A>C
XM_011536096.2:c.1906+752A>C XP_011534398.1:n.1906+752A>C
XM_024446532.1:c.1939A>C XP_024302300.1:p.Thr647Pro
XM_024446533.1:c.1939A>C XP_024302301.1:p.Thr647Pro
NM_001270508.2:c.1939A>C MANE Select NP_001257437.1:p.Thr647Pro
NM_001270507.2:c.1939A>C NP_001257436.1:p.Thr647Pro
NM_006290.4:c.1939A>C NP_006281.1:p.Thr647Pro