Canonical Allele Identifier: CA2575003706
Gene: TNFRSF1A HGNC NCBI

Linked Data

ClinVar Variation Id: 1980463
ClinVar RCV Id: RCV002761361
gnomAD v4: 12-6333063-A-G

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.6333063A>G , CM000674.2:g.6333063A>G GRCh38
NC_000012.11:g.6442229A>G , CM000674.1:g.6442229A>G GRCh37
NC_000012.10:g.6312490A>G NCBI36
NG_007506.1:g.14033T>C , LRG_193:g.14033T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000366159.9:n.585+6T>C
ENST00000437813.8:c.551+6T>C ENSP00000513672.1:n.551+6T>C
ENST00000440083.7:c.770+6T>C ENSP00000413224.3:n.770+6T>C
ENST00000535958.2:c.*378+6T>C ENSP00000513673.1:n.*378+6T>C
ENST00000698339.1:c.551+6T>C ENSP00000513670.1:n.551+6T>C
ENST00000698340.1:c.551+6T>C ENSP00000513671.1:n.551+6T>C
ENST00000162749.7:c.551+6T>C MANE Select ENSP00000162749.2:n.551+6T>C
ENST00000162749.6:c.551+6T>C ENSP00000162749.2:n.551+6T>C
ENST00000366159.8:c.551+6T>C ENSP00000380389.3:n.551+6T>C
ENST00000437813.7:n.512+6T>C
ENST00000534885.5:c.*28+6T>C ENSP00000441803.1:n.*28+6T>C
ENST00000537842.5:n.155+6T>C
ENST00000539372.5:c.551+6T>C ENSP00000442059.1:n.551+6T>C
ENST00000540022.5:c.422+6T>C ENSP00000438343.1:n.422+6T>C
ENST00000543359.5:n.37+6T>C
ENST00000543995.5:c.*138+6T>C ENSP00000442405.1:n.*138+6T>C
NM_001065.3:c.551+6T>C , LRG_193t1:c.551+6T>C NP_001056.1:n.551+6T>C
NM_001346091.1:c.227+6T>C NP_001333020.1:n.227+6T>C
NM_001346092.1:c.-27+6T>C NP_001333021.1:n.-27+6T>C
NR_144351.1:n.854+6T>C
NM_001065.4:c.551+6T>C MANE Select NP_001056.1:n.551+6T>C
NM_001346091.2:c.227+6T>C NP_001333020.1:n.227+6T>C
NM_001346092.2:c.-27+6T>C NP_001333021.1:n.-27+6T>C
NR_144351.2:n.813+6T>C