Canonical Allele Identifier: CA280880

Gene: TNFRSF1A

Linked Data

• ClinVar Variation Id: 97711
• ClinVar RCV Id: RCV000083964
• dbSNP Id: rs104895285
• MyVariant Identifiers: chr12:g.6440039A>T (hg19) ; chr12:g.6330873A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.6330873A>T , CM000674.2:g.6330873A>T	GRCh38
NC_000012.11:g.6440039A>T , CM000674.1:g.6440039A>T	GRCh37
NC_000012.10:g.6310300A>T	NCBI36
NG_007506.1:g.16223T>A , LRG_193:g.16223T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000366159.9:n.1706T>A
ENST00000437813.8:c.*66T>A	ENSP00000513672.1:n.*66T>A
ENST00000440083.7:c.824T>A	ENSP00000413224.3:p.Val275Asp
ENST00000535038.2:n.787T>A
ENST00000535958.2:c.*432T>A	ENSP00000513673.1:n.*432T>A
ENST00000698337.1:n.454T>A
ENST00000698338.1:n.878T>A
ENST00000698339.1:c.*100T>A	ENSP00000513670.1:n.*100T>A
ENST00000698340.1:c.552-162T>A	ENSP00000513671.1:n.552-162T>A
ENST00000162749.7:c.605T>A MANE Select	ENSP00000162749.2:p.Val202Asp
ENST00000162749.6:c.605T>A	ENSP00000162749.2:p.Val202Asp
ENST00000534885.5:c.*82T>A	ENSP00000441803.1:n.*82T>A
ENST00000535038.1:n.275T>A
ENST00000536717.5:n.509T>A
ENST00000537842.5:n.209T>A
ENST00000539372.5:c.605T>A	ENSP00000442059.1:p.Val202Asp
ENST00000540022.5:c.476T>A	ENSP00000438343.1:p.Val159Asp
ENST00000543359.5:n.38-162T>A
ENST00000543995.5:c.*192T>A	ENSP00000442405.1:n.*192T>A
NM_001065.3:c.605T>A , LRG_193t1:c.605T>A	NP_001056.1:p.Val202Asp
NM_001346091.1:c.281T>A	NP_001333020.1:p.Val94Asp
NM_001346092.1:c.146T>A	NP_001333021.1:p.Val49Asp
NR_144351.1:n.855-162T>A
NM_001065.4:c.605T>A MANE Select	NP_001056.1:p.Val202Asp
NM_001346091.2:c.281T>A	NP_001333020.1:p.Val94Asp
NM_001346092.2:c.146T>A	NP_001333021.1:p.Val49Asp
NR_144351.2:n.814-162T>A