Canonical Allele Identifier: CA280733

Gene: TNFRSF1A

Linked Data

• ClinVar Variation Id: 97658
• ClinVar RCV Id: RCV000083911
• dbSNP Id: rs104895243
• MyVariant Identifiers: chr12:g.6443028G>A (hg19) ; chr12:g.6333862G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.6333862G>A , CM000674.2:g.6333862G>A	GRCh38
NC_000012.11:g.6443028G>A , CM000674.1:g.6443028G>A	GRCh37
NC_000012.10:g.6313289G>A	NCBI36
NG_007506.1:g.13234C>T , LRG_193:g.13234C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000366159.9:n.231C>T
ENST00000437813.8:c.197C>T	ENSP00000513672.1:p.Thr66Ile
ENST00000440083.7:c.197C>T	ENSP00000413224.3:p.Thr66Ile
ENST00000535958.2:c.*24C>T	ENSP00000513673.1:n.*24C>T
ENST00000698339.1:c.197C>T	ENSP00000513670.1:p.Thr66Ile
ENST00000698340.1:c.197C>T	ENSP00000513671.1:p.Thr66Ile
ENST00000162749.7:c.197C>T MANE Select	ENSP00000162749.2:p.Thr66Ile
ENST00000162749.6:c.197C>T	ENSP00000162749.2:p.Thr66Ile
ENST00000366159.8:c.197C>T	ENSP00000380389.3:p.Thr66Ile
ENST00000437813.7:n.158C>T
ENST00000440083.6:c.197C>T	ENSP00000413224.2:p.Thr66Ile
ENST00000534885.5:c.43C>T	ENSP00000441803.1:p.Pro15Ser
ENST00000535958.1:n.443C>T
ENST00000536194.1:c.194-24C>T	ENSP00000442919.1:n.194-24C>T
ENST00000539372.5:c.197C>T	ENSP00000442059.1:p.Thr66Ile
ENST00000540022.5:c.193+229C>T	ENSP00000438343.1:n.193+229C>T
ENST00000543048.5:c.197C>T	ENSP00000439981.1:p.Thr66Ile
ENST00000543995.5:c.193+229C>T	ENSP00000442405.1:n.193+229C>T
NM_001065.3:c.197C>T , LRG_193t1:c.197C>T	NP_001056.1:p.Thr66Ile
NM_001346091.1:c.-128C>T	NP_001333020.1:n.-128C>T
NM_001346092.1:c.-381C>T	NP_001333021.1:n.-381C>T
NR_144351.1:n.500C>T
NM_001065.4:c.197C>T MANE Select	NP_001056.1:p.Thr66Ile
NM_001346091.2:c.-128C>T	NP_001333020.1:n.-128C>T
NM_001346092.2:c.-381C>T	NP_001333021.1:n.-381C>T
NR_144351.2:n.459C>T