Canonical Allele Identifier: CA4855017
Gene: TNFRSF11B HGNC NCBI
COSMIC:
COSM453917 (not active)
COSM1488949 (not active)
MyVariant.info:
GRCh38 chr8:g.118951813G>C
GRCh37 chr8:g.119964052G>C
Revel Score:
ENST00000297350 (MANE Select) 0.155
gnomAD v2:
8:119964052 G / C
gnomAD v3:
8:118951813 G / C
gnomAD v4:
chr8-118951813-G-C
Joint Max Group AF 0.86455959 (AFR)
Genomes Max Group AF 0.85658305 (AFR)
Exomes Max Group AF 0.86940724 (AFR)
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.118951813G>C , CM000670.2:g.118951813G>C GRCh38
NC_000008.10:g.119964052G>C , CM000670.1:g.119964052G>C GRCh37
NC_000008.9:g.120033233G>C NCBI36
NG_012202.1:g.5332C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000297350.9:c.9C>G MANE Select ENSP00000297350.4:p.Asn3Lys
ENST00000297350.8:c.9C>G ENSP00000297350.4:p.Asn3Lys
ENST00000517352.1:c.9C>G ENSP00000427924.1:p.Asn3Lys
NM_002546.3:c.9C>G NP_002537.3:p.Asn3Lys
NM_002546.4:c.9C>G MANE Select NP_002537.3:p.Asn3Lys
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