Canonical Allele Identifier: CA3713958
Gene: TNF HGNC NCBI
COSMIC:
COSM4586599 (not active)
MyVariant.info:
GRCh38 chr6:g.31576785C>T
GRCh37 chr6:g.31544562C>T
Revel Score:
ENST00000449264 (MANE Select) 0.188
gnomAD v2:
6:31544562 C / T
gnomAD v3:
6:31576785 C / T
gnomAD v4:
chr6-31576785-C-T
Joint Max Group AF 0.01539587 (MID)
Genomes Max Group AF 0.00171261 (NFE)
Exomes Max Group AF 0.01554213 (MID)
ClinVar RCV:
RCV000963168
ClinVar Variation:
781865
dbSNP:
4645843
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.31576785C>T , CM000668.2:g.31576785C>T GRCh38
NC_000006.11:g.31544562C>T , CM000668.1:g.31544562C>T GRCh37
NC_000006.10:g.31652541C>T NCBI36
NG_007462.1:g.6213C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000699334.1:c.205C>T ENSP00000514308.1:p.Arg69Ter
ENST00000449264.3:c.251C>T MANE Select ENSP00000398698.2:p.Pro84Leu
ENST00000449264.2:c.251C>T ENSP00000398698.2:p.Pro84Leu
NM_000594.3:c.251C>T NP_000585.2:p.Pro84Leu
NM_000594.4:c.251C>T MANE Select NP_000585.2:p.Pro84Leu
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