Canonical Allele Identifier: CA6967104
Gene: TNFSF11 HGNC NCBI
MyVariant.info:
GRCh38 chr13:g.42574305T>C
GRCh37 chr13:g.43148441T>C
Revel Score:
ENST00000239849 0.678
gnomAD v2:
13:43148441 T / C
gnomAD v3:
13:42574305 T / C
gnomAD v4:
chr13-42574305-T-C
Joint Max Group AF 0.00049568 (SAS)
Genomes Max Group AF 0.00007369 (SAS)
Exomes Max Group AF 0.00050311 (SAS)
ClinVar RCV:
RCV003141054
ClinVar Variation:
2437134
dbSNP:
201199211
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Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.42574305T>C , CM000675.2:g.42574305T>C GRCh38
NC_000013.10:g.43148441T>C , CM000675.1:g.43148441T>C GRCh37
NC_000013.9:g.42046441T>C NCBI36
NG_008990.1:g.16570T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000398795.7:c.2T>C MANE Select ENSP00000381775.3:p.Met1Thr
ENST00000239849.8:c.-97T>C ENSP00000239849.7:n.-97T>C
ENST00000358545.6:c.-1+2567T>C ENSP00000351347.2:n.-1+2567T>C
ENST00000398795.6:c.2T>C ENSP00000381775.3:p.Met1Thr
ENST00000405262.6:c.-1+2567T>C ENSP00000384042.2:n.-1+2567T>C
ENST00000544862.5:c.-55+53T>C ENSP00000444913.1:n.-55+53T>C
NM_003701.3:c.2T>C NP_003692.1:p.Met1Thr
NM_033012.3:c.-1+2567T>C NP_143026.1:n.-1+2567T>C
NM_003701.4:c.2T>C MANE Select NP_003692.1:p.Met1Thr
NM_033012.4:c.-1+2567T>C NP_143026.1:n.-1+2567T>C
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