Canonical Allele Identifier: CA280161

Gene: TNFRSF1A

Linked Data

• ClinVar Variation Id: 12343
• ClinVar RCV Id: RCV000013136 ; RCV000624870
• dbSNP Id: rs104895225
• MyVariant Identifiers: chr12:g.6443266A>C (hg19) ; chr12:g.6334100A>C (hg38)
• PubMed: PMID:11443543 ; PMID:23965844 ; PMID:24393624 ; PMID:25637003 ; PMID:26299986 ; PMID:26598380 ; PMID:26821543 ; PMID:26965498 ; PMID:26992170 ; PMID:27068928

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.6334100A>C , CM000674.2:g.6334100A>C	GRCh38
NC_000012.11:g.6443266A>C , CM000674.1:g.6443266A>C	GRCh37
NC_000012.10:g.6313527A>C	NCBI36
NG_007506.1:g.12996T>G , LRG_193:g.12996T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000366159.9:n.218T>G
ENST00000437813.8:c.184T>G	ENSP00000513672.1:p.Cys62Gly
ENST00000440083.7:c.184T>G	ENSP00000413224.3:p.Cys62Gly
ENST00000535958.2:c.184T>G	ENSP00000513673.1:p.Cys62Gly
ENST00000698339.1:c.184T>G	ENSP00000513670.1:p.Cys62Gly
ENST00000698340.1:c.184T>G	ENSP00000513671.1:p.Cys62Gly
ENST00000162749.7:c.184T>G MANE Select	ENSP00000162749.2:p.Cys62Gly
ENST00000162749.6:c.184T>G	ENSP00000162749.2:p.Cys62Gly
ENST00000366159.8:c.184T>G	ENSP00000380389.3:p.Cys62Gly
ENST00000437813.7:n.145T>G
ENST00000440083.6:c.184T>G	ENSP00000413224.2:p.Cys62Gly
ENST00000534885.5:c.40-235T>G	ENSP00000441803.1:n.40-235T>G
ENST00000535958.1:n.405T>G
ENST00000536194.1:c.184T>G	ENSP00000442919.1:p.Cys62Gly
ENST00000538363.1:n.374T>G
ENST00000539372.5:c.184T>G	ENSP00000442059.1:p.Cys62Gly
ENST00000540022.5:c.184T>G	ENSP00000438343.1:p.Cys62Gly
ENST00000543048.5:c.184T>G	ENSP00000439981.1:p.Cys62Gly
ENST00000543995.5:c.184T>G	ENSP00000442405.1:p.Cys62Gly
NM_001065.3:c.184T>G , LRG_193t1:c.184T>G	NP_001056.1:p.Cys62Gly
NM_001346091.1:c.-131-235T>G	NP_001333020.1:n.-131-235T>G
NM_001346092.1:c.-394T>G	NP_001333021.1:n.-394T>G
NR_144351.1:n.487T>G
NM_001065.4:c.184T>G MANE Select	NP_001056.1:p.Cys62Gly
NM_001346091.2:c.-131-235T>G	NP_001333020.1:n.-131-235T>G
NM_001346092.2:c.-394T>G	NP_001333021.1:n.-394T>G
NR_144351.2:n.446T>G