Canonical Allele Identifier: CA122350
Gene: TNF HGNC NCBI
MyVariant.info:
GRCh38 chr6:g.31577157C>T
GRCh37 chr6:g.31544934C>T
Revel Score:
ENST00000449264 (MANE Select) 0.441
gnomAD v2:
6:31544934 C / T
gnomAD v3:
6:31577157 C / T
gnomAD v4:
chr6-31577157-C-T
Joint Max Group AF 7.9e-7 (NFE)
Exomes Max Group AF 8.4e-7 (NFE)
ClinVar RCV:
RCV000013187
ClinVar Variation:
12386
dbSNP:
281865419
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.31577157C>T , CM000668.2:g.31577157C>T GRCh38
NC_000006.11:g.31544934C>T , CM000668.1:g.31544934C>T GRCh37
NC_000006.10:g.31652913C>T NCBI36
NG_007462.1:g.6585C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000699334.1:c.276C>T ENSP00000514308.1:n.276C>T
ENST00000449264.3:c.322C>T MANE Select ENSP00000398698.2:p.Arg108Trp
ENST00000449264.2:c.322C>T ENSP00000398698.2:p.Arg108Trp
NM_000594.3:c.322C>T NP_000585.2:p.Arg108Trp
NM_000594.4:c.322C>T MANE Select NP_000585.2:p.Arg108Trp
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