Canonical Allele Identifier: CA2706580
Gene: TNFSF10 HGNC NCBI
MyVariant.info:
GRCh38 chr3:g.172506513A>G
GRCh37 chr3:g.172224303A>G
gnomAD v2:
3:172224303 A / G
gnomAD v3:
3:172506513 A / G
gnomAD v4:
chr3-172506513-A-G
Joint Max Group AF 0.77299451 (AFR)
Genomes Max Group AF 0.76768528 (AFR)
Exomes Max Group AF 0.77475927 (AFR)
ClinVar RCV:
RCV001638201
ClinVar Variation:
1236214
dbSNP:
1131532
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.172506513A>G , CM000665.2:g.172506513A>G GRCh38
NC_000003.11:g.172224303A>G , CM000665.1:g.172224303A>G GRCh37
NC_000003.10:g.173706997A>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000241261.7:c.825T>C MANE Select ENSP00000241261.2:p.Phe275=
ENST00000241261.6:c.825T>C ENSP00000241261.2:p.Phe275=
ENST00000420541.6:c.*371T>C ENSP00000389931.2:n.*371T>C
NM_001190942.1:c.*371T>C NP_001177871.1:n.*371T>C
NM_003810.3:c.825T>C NP_003801.1:p.Phe275=
NR_033994.1:n.905T>C
NM_003810.4:c.825T>C MANE Select NP_003801.1:p.Phe275=
NM_001190942.2:c.*371T>C NP_001177871.1:n.*371T>C
NR_033994.2:n.828T>C
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