Canonical Allele Identifier: CA4854835

Gene: TNFRSF11B

Linked Data

• ClinVar Variation Id: 258773
• ClinVar RCV Id: RCV000253933 ; RCV000395332 ; RCV002058122
• dbSNP Id: rs2228568
• ExAC: 8:119938782 T / C
• gnomAD v2: 8-119938782-T-C
• gnomAD v3: 8-118926543-T-C
• gnomAD v4: 8-118926543-T-C
• MyVariant Identifiers: chr8:g.119938782T>C (hg19) ; chr8:g.118926543T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.118926543T>C , CM000670.2:g.118926543T>C	GRCh38
NC_000008.10:g.119938782T>C , CM000670.1:g.119938782T>C	GRCh37
NC_000008.9:g.120007963T>C	NCBI36
NG_012202.1:g.30602A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000297350.9:c.768A>G MANE Select	ENSP00000297350.4:p.Leu256=
ENST00000297350.8:c.768A>G	ENSP00000297350.4:p.Leu256=
ENST00000517352.1:c.*611A>G	ENSP00000427924.1:n.*611A>G
ENST00000521597.1:n.512A>G
NM_002546.3:c.768A>G	NP_002537.3:p.Leu256=
NM_002546.4:c.768A>G MANE Select	NP_002537.3:p.Leu256=