Canonical Allele Identifier: CA280707

Gene: TNFRSF1A

Linked Data

• ClinVar Variation Id: 97647
• ClinVar RCV Id: RCV000083900
• dbSNP Id: rs104895289
• MyVariant Identifiers: chr12:g.6443298T>C (hg19) ; chr12:g.6334132T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.6334132T>C , CM000674.2:g.6334132T>C	GRCh38
NC_000012.11:g.6443298T>C , CM000674.1:g.6443298T>C	GRCh37
NC_000012.10:g.6313559T>C	NCBI36
NG_007506.1:g.12964A>G , LRG_193:g.12964A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000366159.9:n.186A>G
ENST00000437813.8:c.152A>G	ENSP00000513672.1:p.His51Arg
ENST00000440083.7:c.152A>G	ENSP00000413224.3:p.His51Arg
ENST00000535958.2:c.152A>G	ENSP00000513673.1:p.His51Arg
ENST00000698339.1:c.152A>G	ENSP00000513670.1:p.His51Arg
ENST00000698340.1:c.152A>G	ENSP00000513671.1:p.His51Arg
ENST00000162749.7:c.152A>G MANE Select	ENSP00000162749.2:p.His51Arg
ENST00000162749.6:c.152A>G	ENSP00000162749.2:p.His51Arg
ENST00000366159.8:c.152A>G	ENSP00000380389.3:p.His51Arg
ENST00000437813.7:n.113A>G
ENST00000440083.6:c.152A>G	ENSP00000413224.2:p.His51Arg
ENST00000534885.5:c.40-267A>G	ENSP00000441803.1:n.40-267A>G
ENST00000535958.1:n.373A>G
ENST00000536194.1:c.152A>G	ENSP00000442919.1:p.His51Arg
ENST00000538363.1:n.342A>G
ENST00000539372.5:c.152A>G	ENSP00000442059.1:p.His51Arg
ENST00000540022.5:c.152A>G	ENSP00000438343.1:p.His51Arg
ENST00000543048.5:c.152A>G	ENSP00000439981.1:p.His51Arg
ENST00000543995.5:c.152A>G	ENSP00000442405.1:p.His51Arg
NM_001065.3:c.152A>G , LRG_193t1:c.152A>G	NP_001056.1:p.His51Arg
NM_001346091.1:c.-131-267A>G	NP_001333020.1:n.-131-267A>G
NM_001346092.1:c.-426A>G	NP_001333021.1:n.-426A>G
NR_144351.1:n.455A>G
NM_001065.4:c.152A>G MANE Select	NP_001056.1:p.His51Arg
NM_001346091.2:c.-131-267A>G	NP_001333020.1:n.-131-267A>G
NM_001346092.2:c.-426A>G	NP_001333021.1:n.-426A>G
NR_144351.2:n.414A>G