Canonical Allele Identifier: CA4854968
Gene: TNFRSF11B HGNC NCBI

Linked Data

ClinVar Variation Id: 361694
ClinVar RCV Id: RCV000371217 RCV000729123
dbSNP Id: rs144654126
ExAC: 8:119945336 G / A
gnomAD v2: 8-119945336-G-A
gnomAD v3: 8-118933097-G-A
gnomAD v4: 8-118933097-G-A
COSMIC: COSM3896369 COSM3896370
MyVariant Identifiers: chr8:g.119945336G>A (hg19) chr8:g.118933097G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.118933097G>A , CM000670.2:g.118933097G>A GRCh38
NC_000008.10:g.119945336G>A , CM000670.1:g.119945336G>A GRCh37
NC_000008.9:g.120014517G>A NCBI36
NG_012202.1:g.24048C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000297350.9:c.234C>T MANE Select ENSP00000297350.4:p.Asp78=
ENST00000297350.8:c.234C>T ENSP00000297350.4:p.Asp78=
ENST00000517352.1:c.234C>T ENSP00000427924.1:p.Asp78=
NM_002546.3:c.234C>T NP_002537.3:p.Asp78=
NM_002546.4:c.234C>T MANE Select NP_002537.3:p.Asp78=
Search 100 bp 5'
Search 100 bp 3'