Canonical Allele Identifier: CA280864

Gene: TNFRSF1A

Linked Data

• ClinVar Variation Id: 97703
• ClinVar RCV Id: RCV000083956 ; RCV000214693 ; RCV000626739 ; RCV002262672
• dbSNP Id: rs104895288
• ExAC: 12:6442571 T / C
• gnomAD v2: 12-6442571-T-C
• gnomAD v3: 12-6333405-T-C
• gnomAD v4: 12-6333405-T-C
• MyVariant Identifiers: chr12:g.6442571T>C (hg19) ; chr12:g.6333405T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.6333405T>C , CM000674.2:g.6333405T>C	GRCh38
NC_000012.11:g.6442571T>C , CM000674.1:g.6442571T>C	GRCh37
NC_000012.10:g.6312832T>C	NCBI36
NG_007506.1:g.13691A>G , LRG_193:g.13691A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000366159.9:n.468A>G
ENST00000437813.8:c.434A>G	ENSP00000513672.1:p.Asn145Ser
ENST00000440083.7:c.434A>G	ENSP00000413224.3:p.Asn145Ser
ENST00000535958.2:c.*261A>G	ENSP00000513673.1:n.*261A>G
ENST00000698339.1:c.434A>G	ENSP00000513670.1:p.Asn145Ser
ENST00000698340.1:c.434A>G	ENSP00000513671.1:p.Asn145Ser
ENST00000162749.7:c.434A>G MANE Select	ENSP00000162749.2:p.Asn145Ser
ENST00000162749.6:c.434A>G	ENSP00000162749.2:p.Asn145Ser
ENST00000366159.8:c.434A>G	ENSP00000380389.3:p.Asn145Ser
ENST00000437813.7:n.395A>G
ENST00000440083.6:c.434A>G	ENSP00000413224.2:p.Asn145Ser
ENST00000534885.5:c.280A>G	ENSP00000441803.1:p.Ile94Val
ENST00000537842.5:n.38A>G
ENST00000539372.5:c.434A>G	ENSP00000442059.1:p.Asn145Ser
ENST00000540022.5:c.305A>G	ENSP00000438343.1:p.Asn102Ser
ENST00000543048.5:c.*45A>G	ENSP00000439981.1:n.*45A>G
ENST00000543995.5:c.*21A>G	ENSP00000442405.1:n.*21A>G
NM_001065.3:c.434A>G , LRG_193t1:c.434A>G	NP_001056.1:p.Asn145Ser
NM_001346091.1:c.110A>G	NP_001333020.1:p.Asn37Ser
NM_001346092.1:c.-144A>G	NP_001333021.1:n.-144A>G
NR_144351.1:n.737A>G
NM_001065.4:c.434A>G MANE Select	NP_001056.1:p.Asn145Ser
NM_001346091.2:c.110A>G	NP_001333020.1:p.Asn37Ser
NM_001346092.2:c.-144A>G	NP_001333021.1:n.-144A>G
NR_144351.2:n.696A>G