Canonical Allele Identifier: CA280793
Gene: TNFRSF1A HGNC NCBI

Linked Data

ClinVar Variation Id: 97678
ClinVar RCV Id: RCV000083931
dbSNP Id: rs104895279

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.6333793A>G , CM000674.2:g.6333793A>G GRCh38
NC_000012.11:g.6442959A>G , CM000674.1:g.6442959A>G GRCh37
NC_000012.10:g.6313220A>G NCBI36
NG_007506.1:g.13303T>C , LRG_193:g.13303T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000366159.9:n.300T>C
ENST00000437813.8:c.266T>C ENSP00000513672.1:p.Phe89Ser
ENST00000440083.7:c.266T>C ENSP00000413224.3:p.Phe89Ser
ENST00000535958.2:c.*93T>C ENSP00000513673.1:n.*93T>C
ENST00000698339.1:c.266T>C ENSP00000513670.1:p.Phe89Ser
ENST00000698340.1:c.266T>C ENSP00000513671.1:p.Phe89Ser
ENST00000162749.7:c.266T>C MANE Select ENSP00000162749.2:p.Phe89Ser
ENST00000162749.6:c.266T>C ENSP00000162749.2:p.Phe89Ser
ENST00000366159.8:c.266T>C ENSP00000380389.3:p.Phe89Ser
ENST00000437813.7:n.227T>C
ENST00000440083.6:c.266T>C ENSP00000413224.2:p.Phe89Ser
ENST00000534885.5:c.112T>C ENSP00000441803.1:p.Ser38Pro
ENST00000535958.1:n.512T>C
ENST00000536194.1:c.239T>C ENSP00000442919.1:p.Phe80Ser
ENST00000539372.5:c.266T>C ENSP00000442059.1:p.Phe89Ser
ENST00000540022.5:c.194-277T>C ENSP00000438343.1:n.194-277T>C
ENST00000543048.5:c.214+52T>C ENSP00000439981.1:n.214+52T>C
ENST00000543995.5:c.193+298T>C ENSP00000442405.1:n.193+298T>C
NM_001065.3:c.266T>C , LRG_193t1:c.266T>C NP_001056.1:p.Phe89Ser
NM_001346091.1:c.-59T>C NP_001333020.1:n.-59T>C
NM_001346092.1:c.-312T>C NP_001333021.1:n.-312T>C
NR_144351.1:n.569T>C
NM_001065.4:c.266T>C MANE Select NP_001056.1:p.Phe89Ser
NM_001346091.2:c.-59T>C NP_001333020.1:n.-59T>C
NM_001346092.2:c.-312T>C NP_001333021.1:n.-312T>C
NR_144351.2:n.528T>C