Canonical Allele Identifier: CA944341066
Gene: TNFRSF1A HGNC NCBI

Linked Data

dbSNP Id: rs1226230412
gnomAD v3: 12-6329703-C-A
gnomAD v4: 12-6329703-C-A

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.6329703C>A , CM000674.2:g.6329703C>A GRCh38
NC_000012.11:g.6438869C>A , CM000674.1:g.6438869C>A GRCh37
NC_000012.10:g.6309130C>A NCBI36
NG_007506.1:g.17393G>T , LRG_193:g.17393G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000366159.9:n.2158+75G>T
ENST00000437813.8:c.*518+75G>T ENSP00000513672.1:n.*518+75G>T
ENST00000440083.7:c.1276+75G>T ENSP00000413224.3:n.1276+75G>T
ENST00000535958.2:c.*884+75G>T ENSP00000513673.1:n.*884+75G>T
ENST00000698337.1:n.1018+75G>T
ENST00000698338.1:n.1671+75G>T
ENST00000698339.1:c.*552+75G>T ENSP00000513670.1:n.*552+75G>T
ENST00000698340.1:c.*296+75G>T ENSP00000513671.1:n.*296+75G>T
ENST00000162749.7:c.1057+75G>T MANE Select ENSP00000162749.2:n.1057+75G>T
ENST00000162749.6:c.1057+75G>T ENSP00000162749.2:n.1057+75G>T
ENST00000534885.5:c.*534+75G>T ENSP00000441803.1:n.*534+75G>T
ENST00000536717.5:n.961+75G>T
ENST00000540022.5:c.928+75G>T ENSP00000438343.1:n.928+75G>T
ENST00000543359.5:n.469+75G>T
ENST00000543995.5:c.*644+75G>T ENSP00000442405.1:n.*644+75G>T
NM_001065.3:c.1057+75G>T , LRG_193t1:c.1057+75G>T NP_001056.1:n.1057+75G>T
NM_001346091.1:c.733+75G>T NP_001333020.1:n.733+75G>T
NM_001346092.1:c.598+75G>T NP_001333021.1:n.598+75G>T
NR_144351.1:n.1286+75G>T
NM_001065.4:c.1057+75G>T MANE Select NP_001056.1:n.1057+75G>T
NM_001346091.2:c.733+75G>T NP_001333020.1:n.733+75G>T
NM_001346092.2:c.598+75G>T NP_001333021.1:n.598+75G>T
NR_144351.2:n.1245+75G>T