Canonical Allele Identifier: CA4854973

Gene: TNFRSF11B

Linked Data

• ClinVar Variation Id: 1511978
• ClinVar RCV Id: RCV002016965 ; RCV003289388
• dbSNP Id: rs754063545
• ExAC: 8:119945389 C / T
• gnomAD v2: 8-119945389-C-T
• gnomAD v3: 8-118933150-C-T
• gnomAD v4: 8-118933150-C-T
• MyVariant Identifiers: chr8:g.119945389C>T (hg19) ; chr8:g.118933150C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.118933150C>T , CM000670.2:g.118933150C>T	GRCh38
NC_000008.10:g.119945389C>T , CM000670.1:g.119945389C>T	GRCh37
NC_000008.9:g.120014570C>T	NCBI36
NG_012202.1:g.23995G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000297350.9:c.181G>A MANE Select	ENSP00000297350.4:p.Val61Met
ENST00000297350.8:c.181G>A	ENSP00000297350.4:p.Val61Met
ENST00000517352.1:c.181G>A	ENSP00000427924.1:p.Val61Met
NM_002546.3:c.181G>A	NP_002537.3:p.Val61Met
NM_002546.4:c.181G>A MANE Select	NP_002537.3:p.Val61Met