Canonical Allele Identifier: CA280869

Gene: TNFRSF1A

Linked Data

• ClinVar Variation Id: 97706
• ClinVar RCV Id: RCV000083959 ; RCV000585293
• dbSNP Id: rs104895251
• ExAC: 12:6442329 C / T
• gnomAD v2: 12-6442329-C-T
• gnomAD v3: 12-6333163-C-T
• gnomAD v4: 12-6333163-C-T
• MyVariant Identifiers: chr12:g.6442329C>T (hg19) ; chr12:g.6333163C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.6333163C>T , CM000674.2:g.6333163C>T	GRCh38
NC_000012.11:g.6442329C>T , CM000674.1:g.6442329C>T	GRCh37
NC_000012.10:g.6312590C>T	NCBI36
NG_007506.1:g.13933G>A , LRG_193:g.13933G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000366159.9:n.507-16G>A
ENST00000437813.8:c.473-16G>A	ENSP00000513672.1:n.473-16G>A
ENST00000440083.7:c.676G>A	ENSP00000413224.3:p.Ala226Thr
ENST00000535958.2:c.*300-16G>A	ENSP00000513673.1:n.*300-16G>A
ENST00000698339.1:c.473-16G>A	ENSP00000513670.1:n.473-16G>A
ENST00000698340.1:c.473-16G>A	ENSP00000513671.1:n.473-16G>A
ENST00000162749.7:c.473-16G>A MANE Select	ENSP00000162749.2:n.473-16G>A
ENST00000162749.6:c.473-16G>A	ENSP00000162749.2:n.473-16G>A
ENST00000366159.8:c.473-16G>A	ENSP00000380389.3:n.473-16G>A
ENST00000437813.7:n.434-16G>A
ENST00000440083.6:c.676G>A	ENSP00000413224.2:p.Ala226Thr
ENST00000534885.5:c.319-16G>A	ENSP00000441803.1:n.319-16G>A
ENST00000537842.5:n.77-16G>A
ENST00000539372.5:c.473-16G>A	ENSP00000442059.1:n.473-16G>A
ENST00000540022.5:c.344-16G>A	ENSP00000438343.1:n.344-16G>A
ENST00000543048.5:c.*84-16G>A	ENSP00000439981.1:n.*84-16G>A
ENST00000543995.5:c.*60-16G>A	ENSP00000442405.1:n.*60-16G>A
NM_001065.3:c.473-16G>A , LRG_193t1:c.473-16G>A	NP_001056.1:n.473-16G>A
NM_001346091.1:c.149-16G>A	NP_001333020.1:n.149-16G>A
NM_001346092.1:c.-105-16G>A	NP_001333021.1:n.-105-16G>A
NR_144351.1:n.776-16G>A
NM_001065.4:c.473-16G>A MANE Select	NP_001056.1:n.473-16G>A
NM_001346091.2:c.149-16G>A	NP_001333020.1:n.149-16G>A
NM_001346092.2:c.-105-16G>A	NP_001333021.1:n.-105-16G>A
NR_144351.2:n.735-16G>A