Canonical Allele Identifier: CA338455905

Gene: TNFRSF1B

Linked Data

• ClinVar Variation Id: 2250250
• ClinVar RCV Id: RCV004113442
• dbSNP Id: rs1639183799
• gnomAD v3: 1-12193009-C-A
• gnomAD v4: 1-12193009-C-A
• MyVariant Identifiers: chr1:g.12253066C>A (hg19) ; chr1:g.12193009C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.12193009C>A , CM000663.2:g.12193009C>A	GRCh38
NC_000001.10:g.12253066C>A , CM000663.1:g.12253066C>A	GRCh37
NC_000001.9:g.12175653C>A	NCBI36
NG_029791.1:g.31007C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000376259.7:c.698C>A MANE Select	ENSP00000365435.3:p.Pro233His
ENST00000376259.6:c.698C>A	ENSP00000365435.3:p.Pro233His
ENST00000492361.1:n.687C>A
NM_001066.2:c.698C>A	NP_001057.1:p.Pro233His
XM_011542060.1:c.698C>A	XP_011540362.1:p.Pro233His
XM_011542061.1:c.698C>A	XP_011540363.1:p.Pro233His
XM_011542062.1:c.677C>A	XP_011540364.1:p.Pro226His
XM_011542063.1:c.698C>A	XP_011540365.1:p.Pro233His
XM_011542060.2:c.698C>A	XP_011540362.1:p.Pro233His
XM_011542063.2:c.698C>A	XP_011540365.1:p.Pro233His
XM_017002211.1:c.698C>A	XP_016857700.1:p.Pro233His
XM_017002214.1:c.113C>A	XP_016857703.1:p.Pro38His
XM_017002215.1:c.113C>A	XP_016857704.1:p.Pro38His
NM_001066.3:c.698C>A MANE Select	NP_001057.1:p.Pro233His