Canonical Allele Identifier: CA280718
Gene: TNFRSF1A HGNC NCBI

Linked Data

ClinVar Variation Id: 97651
ClinVar RCV Id: RCV000083904
dbSNP Id: rs104895230
gnomAD v4: 12-6334111-C-A

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.6334111C>A , CM000674.2:g.6334111C>A GRCh38
NC_000012.11:g.6443277C>A , CM000674.1:g.6443277C>A GRCh37
NC_000012.10:g.6313538C>A NCBI36
NG_007506.1:g.12985G>T , LRG_193:g.12985G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000366159.9:n.207G>T
ENST00000437813.8:c.173G>T ENSP00000513672.1:p.Cys58Phe
ENST00000440083.7:c.173G>T ENSP00000413224.3:p.Cys58Phe
ENST00000535958.2:c.173G>T ENSP00000513673.1:p.Cys58Phe
ENST00000698339.1:c.173G>T ENSP00000513670.1:p.Cys58Phe
ENST00000698340.1:c.173G>T ENSP00000513671.1:p.Cys58Phe
ENST00000162749.7:c.173G>T MANE Select ENSP00000162749.2:p.Cys58Phe
ENST00000162749.6:c.173G>T ENSP00000162749.2:p.Cys58Phe
ENST00000366159.8:c.173G>T ENSP00000380389.3:p.Cys58Phe
ENST00000437813.7:n.134G>T
ENST00000440083.6:c.173G>T ENSP00000413224.2:p.Cys58Phe
ENST00000534885.5:c.40-246G>T ENSP00000441803.1:n.40-246G>T
ENST00000535958.1:n.394G>T
ENST00000536194.1:c.173G>T ENSP00000442919.1:p.Cys58Phe
ENST00000538363.1:n.363G>T
ENST00000539372.5:c.173G>T ENSP00000442059.1:p.Cys58Phe
ENST00000540022.5:c.173G>T ENSP00000438343.1:p.Cys58Phe
ENST00000543048.5:c.173G>T ENSP00000439981.1:p.Cys58Phe
ENST00000543995.5:c.173G>T ENSP00000442405.1:p.Cys58Phe
NM_001065.3:c.173G>T , LRG_193t1:c.173G>T NP_001056.1:p.Cys58Phe
NM_001346091.1:c.-131-246G>T NP_001333020.1:n.-131-246G>T
NM_001346092.1:c.-405G>T NP_001333021.1:n.-405G>T
NR_144351.1:n.476G>T
NM_001065.4:c.173G>T MANE Select NP_001056.1:p.Cys58Phe
NM_001346091.2:c.-131-246G>T NP_001333020.1:n.-131-246G>T
NM_001346092.2:c.-405G>T NP_001333021.1:n.-405G>T
NR_144351.2:n.435G>T