Canonical Allele Identifier: CA4674790
Gene: TNFRSF10A HGNC NCBI
COSMIC:
COSM3735900 (not active)
MyVariant.info:
GRCh38 chr8:g.23200707T>G
GRCh37 chr8:g.23058220T>G
Revel Score:
ENST00000221132 (MANE Select) 0.109
ENST00000524158 0.109
gnomAD v2:
8:23058220 T / G
gnomAD v3:
8:23200707 T / G
gnomAD v4:
chr8-23200707-T-G
Joint Max Group AF 0.20402371 (NFE)
Genomes Max Group AF 0.19938542 (NFE)
Exomes Max Group AF 0.20415533 (NFE)
ClinVar RCV:
RCV001650796
ClinVar Variation:
1253334
dbSNP:
20576
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.23200707T>G , CM000670.2:g.23200707T>G GRCh38
NC_000008.10:g.23058220T>G , CM000670.1:g.23058220T>G GRCh37
NC_000008.9:g.23114165T>G NCBI36
NG_032107.1:g.29461A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000221132.8:c.683A>C MANE Select ENSP00000221132.3:p.Glu228Ala
ENST00000221132.7:c.683A>C ENSP00000221132.3:p.Glu228Ala
ENST00000524158.5:c.77A>C ENSP00000428884.1:p.Glu26Ala
ENST00000613472.1:c.209A>C ENSP00000480778.1:p.Glu70Ala
NM_003844.3:c.683A>C NP_003835.3:p.Glu228Ala
NM_003844.4:c.683A>C MANE Select NP_003835.3:p.Glu228Ala
Search 100 bp 5'
Search 100 bp 3'