Canonical Allele Identifier: CA118569
Gene: TNFRSF11B HGNC NCBI

Linked Data

ClinVar Variation Id: 6971
ClinVar RCV Id: RCV000007386 RCV001851721
dbSNP Id: rs104894092
gnomAD v3: 8-118932982-A-G
gnomAD v4: 8-118932982-A-G
MyVariant Identifiers: chr8:g.119945221A>G (hg19) chr8:g.118932982A>G (hg38)
PubMed: PMID:14672344
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.118932982A>G , CM000670.2:g.118932982A>G GRCh38
NC_000008.10:g.119945221A>G , CM000670.1:g.119945221A>G GRCh37
NC_000008.9:g.120014402A>G NCBI36
NG_012202.1:g.24163T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000297350.9:c.349T>C MANE Select ENSP00000297350.4:p.Phe117Leu
ENST00000297350.8:c.349T>C ENSP00000297350.4:p.Phe117Leu
ENST00000517352.1:c.349T>C ENSP00000427924.1:p.Phe117Leu
NM_002546.3:c.349T>C NP_002537.3:p.Phe117Leu
NM_002546.4:c.349T>C MANE Select NP_002537.3:p.Phe117Leu
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