Canonical Allele Identifier: CA886690828
Gene: TNFRSF1B HGNC NCBI

Linked Data

dbSNP Id: rs1322122641
gnomAD v3: 1-12208263-G-A
gnomAD v4: 1-12208263-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.12208263G>A , CM000663.2:g.12208263G>A GRCh38
NC_000001.10:g.12268320G>A , CM000663.1:g.12268320G>A GRCh37
NC_000001.9:g.12190907G>A NCBI36
NG_029791.1:g.46261G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000376259.7:c.*1243G>A MANE Select ENSP00000365435.3:n.*1243G>A
ENST00000376259.6:c.*1243G>A ENSP00000365435.3:n.*1243G>A
ENST00000492361.1:n.2618G>A
NM_001066.2:c.*1243G>A NP_001057.1:n.*1243G>A
XM_011542060.1:c.*1243G>A XP_011540362.1:n.*1243G>A
XM_011542061.1:c.*1243G>A XP_011540363.1:n.*1243G>A
XM_011542062.1:c.2677G>A XP_011540364.1:n.2677G>A
XM_011542063.1:c.*1243G>A XP_011540365.1:n.*1243G>A
XM_011542060.2:c.*1243G>A XP_011540362.1:n.*1243G>A
XM_011542063.2:c.*1243G>A XP_011540365.1:n.*1243G>A
XM_017002214.1:c.*1243G>A XP_016857703.1:n.*1243G>A
XM_017002215.1:c.*1243G>A XP_016857704.1:n.*1243G>A
NM_001066.3:c.*1243G>A MANE Select NP_001057.1:n.*1243G>A