Canonical Allele Identifier: CA280710

Gene: TNFRSF1A

Linked Data

• ClinVar Variation Id: 97648
• ClinVar RCV Id: RCV000083901
• dbSNP Id: rs104895254
• MyVariant Identifiers: chr12:g.6443297G>C (hg19) ; chr12:g.6334131G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.6334131G>C , CM000674.2:g.6334131G>C	GRCh38
NC_000012.11:g.6443297G>C , CM000674.1:g.6443297G>C	GRCh37
NC_000012.10:g.6313558G>C	NCBI36
NG_007506.1:g.12965C>G , LRG_193:g.12965C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000366159.9:n.187C>G
ENST00000437813.8:c.153C>G	ENSP00000513672.1:p.His51Gln
ENST00000440083.7:c.153C>G	ENSP00000413224.3:p.His51Gln
ENST00000535958.2:c.153C>G	ENSP00000513673.1:p.His51Gln
ENST00000698339.1:c.153C>G	ENSP00000513670.1:p.His51Gln
ENST00000698340.1:c.153C>G	ENSP00000513671.1:p.His51Gln
ENST00000162749.7:c.153C>G MANE Select	ENSP00000162749.2:p.His51Gln
ENST00000162749.6:c.153C>G	ENSP00000162749.2:p.His51Gln
ENST00000366159.8:c.153C>G	ENSP00000380389.3:p.His51Gln
ENST00000437813.7:n.114C>G
ENST00000440083.6:c.153C>G	ENSP00000413224.2:p.His51Gln
ENST00000534885.5:c.40-266C>G	ENSP00000441803.1:n.40-266C>G
ENST00000535958.1:n.374C>G
ENST00000536194.1:c.153C>G	ENSP00000442919.1:p.His51Gln
ENST00000538363.1:n.343C>G
ENST00000539372.5:c.153C>G	ENSP00000442059.1:p.His51Gln
ENST00000540022.5:c.153C>G	ENSP00000438343.1:p.His51Gln
ENST00000543048.5:c.153C>G	ENSP00000439981.1:p.His51Gln
ENST00000543995.5:c.153C>G	ENSP00000442405.1:p.His51Gln
NM_001065.3:c.153C>G , LRG_193t1:c.153C>G	NP_001056.1:p.His51Gln
NM_001346091.1:c.-131-266C>G	NP_001333020.1:n.-131-266C>G
NM_001346092.1:c.-425C>G	NP_001333021.1:n.-425C>G
NR_144351.1:n.456C>G
NM_001065.4:c.153C>G MANE Select	NP_001056.1:p.His51Gln
NM_001346091.2:c.-131-266C>G	NP_001333020.1:n.-131-266C>G
NM_001346092.2:c.-425C>G	NP_001333021.1:n.-425C>G
NR_144351.2:n.415C>G