Canonical Allele Identifier: CA383549089

Gene: TNFRSF1A

Linked Data

• ClinVar Variation Id: 839645
• ClinVar RCV Id: RCV001041448
• dbSNP Id: rs1206840359
• gnomAD v2: 12-6442280-T-C
• gnomAD v4: 12-6333114-T-C
• MyVariant Identifiers: chr12:g.6442280T>C (hg19) ; chr12:g.6333114T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.6333114T>C , CM000674.2:g.6333114T>C	GRCh38
NC_000012.11:g.6442280T>C , CM000674.1:g.6442280T>C	GRCh37
NC_000012.10:g.6312541T>C	NCBI36
NG_007506.1:g.13982A>G , LRG_193:g.13982A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000366159.9:n.540A>G
ENST00000437813.8:c.506A>G	ENSP00000513672.1:p.His169Arg
ENST00000440083.7:c.725A>G	ENSP00000413224.3:p.His242Arg
ENST00000535958.2:c.*333A>G	ENSP00000513673.1:n.*333A>G
ENST00000698339.1:c.506A>G	ENSP00000513670.1:p.His169Arg
ENST00000698340.1:c.506A>G	ENSP00000513671.1:p.His169Arg
ENST00000162749.7:c.506A>G MANE Select	ENSP00000162749.2:p.His169Arg
ENST00000162749.6:c.506A>G	ENSP00000162749.2:p.His169Arg
ENST00000366159.8:c.506A>G	ENSP00000380389.3:p.His169Arg
ENST00000437813.7:n.467A>G
ENST00000440083.6:c.725A>G	ENSP00000413224.2:p.His242Arg
ENST00000534885.5:c.352A>G	ENSP00000441803.1:p.Met118Val
ENST00000537842.5:n.110A>G
ENST00000539372.5:c.506A>G	ENSP00000442059.1:p.His169Arg
ENST00000540022.5:c.377A>G	ENSP00000438343.1:p.His126Arg
ENST00000543048.5:c.*117A>G	ENSP00000439981.1:n.*117A>G
ENST00000543995.5:c.*93A>G	ENSP00000442405.1:n.*93A>G
NM_001065.3:c.506A>G , LRG_193t1:c.506A>G	NP_001056.1:p.His169Arg
NM_001346091.1:c.182A>G	NP_001333020.1:p.His61Arg
NM_001346092.1:c.-72A>G	NP_001333021.1:n.-72A>G
NR_144351.1:n.809A>G
NM_001065.4:c.506A>G MANE Select	NP_001056.1:p.His169Arg
NM_001346091.2:c.182A>G	NP_001333020.1:p.His61Arg
NM_001346092.2:c.-72A>G	NP_001333021.1:n.-72A>G
NR_144351.2:n.768A>G