Canonical Allele Identifier: CA2643341560
Gene: TNFRSF1B HGNC NCBI

Linked Data

gnomAD v4: 1-12207249-A-C

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.12207249A>C , CM000663.2:g.12207249A>C GRCh38
NC_000001.10:g.12267306A>C , CM000663.1:g.12267306A>C GRCh37
NC_000001.9:g.12189893A>C NCBI36
NG_029791.1:g.45247A>C

Transcript Alleles

HGVS Amino-acid change
ENST00000376259.7:c.*229A>C MANE Select ENSP00000365435.3:n.*229A>C
ENST00000376259.6:c.*229A>C ENSP00000365435.3:n.*229A>C
ENST00000492361.1:n.1604A>C
NM_001066.2:c.*229A>C NP_001057.1:n.*229A>C
XM_011542060.1:c.*229A>C XP_011540362.1:n.*229A>C
XM_011542061.1:c.*229A>C XP_011540363.1:n.*229A>C
XM_011542062.1:c.1663A>C XP_011540364.1:n.1663A>C
XM_011542063.1:c.*229A>C XP_011540365.1:n.*229A>C
XM_011542060.2:c.*229A>C XP_011540362.1:n.*229A>C
XM_011542063.2:c.*229A>C XP_011540365.1:n.*229A>C
XM_017002214.1:c.*229A>C XP_016857703.1:n.*229A>C
XM_017002215.1:c.*229A>C XP_016857704.1:n.*229A>C
NM_001066.3:c.*229A>C MANE Select NP_001057.1:n.*229A>C