Canonical Allele Identifier: CA600837

Gene: TNFRSF1B

Linked Data

• dbSNP Id: rs140857317
• ExAC: 1:12252987 C / T
• gnomAD v2: 1-12252987-C-T
• gnomAD v3: 1-12192930-C-T
• gnomAD v4: 1-12192930-C-T
• MyVariant Identifiers: chr1:g.12252987C>T (hg19) ; chr1:g.12192930C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.12192930C>T , CM000663.2:g.12192930C>T	GRCh38
NC_000001.10:g.12252987C>T , CM000663.1:g.12252987C>T	GRCh37
NC_000001.9:g.12175574C>T	NCBI36
NG_029791.1:g.30928C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000376259.7:c.619C>T MANE Select	ENSP00000365435.3:p.Arg207Trp
ENST00000376259.6:c.619C>T	ENSP00000365435.3:p.Arg207Trp
ENST00000489921.1:n.331C>T
ENST00000492361.1:n.608C>T
NM_001066.2:c.619C>T	NP_001057.1:p.Arg207Trp
XM_011542060.1:c.619C>T	XP_011540362.1:p.Arg207Trp
XM_011542061.1:c.619C>T	XP_011540363.1:p.Arg207Trp
XM_011542062.1:c.598C>T	XP_011540364.1:p.Arg200Trp
XM_011542063.1:c.619C>T	XP_011540365.1:p.Arg207Trp
XM_011542060.2:c.619C>T	XP_011540362.1:p.Arg207Trp
XM_011542063.2:c.619C>T	XP_011540365.1:p.Arg207Trp
XM_017002211.1:c.619C>T	XP_016857700.1:p.Arg207Trp
XM_017002214.1:c.34C>T	XP_016857703.1:p.Arg12Trp
XM_017002215.1:c.34C>T	XP_016857704.1:p.Arg12Trp
NM_001066.3:c.619C>T MANE Select	NP_001057.1:p.Arg207Trp