Canonical Allele Identifier: CA12448865
Gene: TNFAIP3 HGNC NCBI
COSMIC:
COSN14849296 (not active)
MyVariant.info:
GRCh38 chr6:g.137868805C>T
GRCh37 chr6:g.138189942C>T
gnomAD v2:
6:138189942 C / T
gnomAD v3:
6:137868805 C / T
gnomAD v4:
chr6-137868805-C-T
Joint Max Group AF 0.459752 (AFR)
Genomes Max Group AF 0.459752 (AFR)
dbSNP:
5029928
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.137868805C>T , CM000668.2:g.137868805C>T GRCh38
NC_000006.11:g.138189942C>T , CM000668.1:g.138189942C>T GRCh37
NC_000006.10:g.138231635C>T NCBI36
NG_032761.1:g.6362C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000420009.6:c.-16+1287C>T ENSP00000401562.2:n.-16+1287C>T
ENST00000711061.1:c.-16+1263C>T ENSP00000518561.1:n.-16+1263C>T
ENST00000421450.2:c.-16+1263C>T ENSP00000393577.2:n.-16+1263C>T
ENST00000433680.2:c.-16+1069C>T ENSP00000409845.2:n.-16+1069C>T
ENST00000698329.1:n.174+1311C>T
ENST00000612899.5:c.-16+1263C>T MANE Select ENSP00000481570.1:n.-16+1263C>T
ENST00000237289.8:c.-16+1311C>T ENSP00000237289.4:n.-16+1311C>T
ENST00000420009.5:c.-16+1287C>T ENSP00000401562.1:n.-16+1287C>T
ENST00000421450.1:c.-16+1263C>T ENSP00000393577.1:n.-16+1263C>T
ENST00000433680.1:c.-16+1069C>T ENSP00000409845.1:n.-16+1069C>T
ENST00000612899.4:c.-16+1263C>T ENSP00000481570.1:n.-16+1263C>T
NM_001270507.1:c.-16+1287C>T NP_001257436.1:n.-16+1287C>T
NM_001270508.1:c.-16+1263C>T NP_001257437.1:n.-16+1263C>T
NM_006290.3:c.-16+1311C>T NP_006281.1:n.-16+1311C>T
XM_011536095.1:c.-16+1833C>T XP_011534397.1:n.-16+1833C>T
XM_011536096.1:c.-16+1263C>T XP_011534398.1:n.-16+1263C>T
XM_011536096.2:c.-16+1263C>T XP_011534398.1:n.-16+1263C>T
XM_024446532.1:c.-2123C>T XP_024302300.1:n.-2123C>T
XM_024446533.1:c.-16+564C>T XP_024302301.1:n.-16+564C>T
NM_001270508.2:c.-16+1263C>T MANE Select NP_001257437.1:n.-16+1263C>T
NM_001270507.2:c.-16+1287C>T NP_001257436.1:n.-16+1287C>T
NM_006290.4:c.-16+1311C>T NP_006281.1:n.-16+1311C>T
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