Canonical Allele Identifier: CA280748

Gene: TNFRSF1A

Linked Data

• ClinVar Variation Id: 97663
• ClinVar RCV Id: RCV000083916 ; RCV002262668
• dbSNP Id: rs104895238
• MyVariant Identifiers: chr12:g.6443011A>G (hg19) ; chr12:g.6333845A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.6333845A>G , CM000674.2:g.6333845A>G	GRCh38
NC_000012.11:g.6443011A>G , CM000674.1:g.6443011A>G	GRCh37
NC_000012.10:g.6313272A>G	NCBI36
NG_007506.1:g.13251T>C , LRG_193:g.13251T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000366159.9:n.248T>C
ENST00000437813.8:c.214T>C	ENSP00000513672.1:p.Cys72Arg
ENST00000440083.7:c.214T>C	ENSP00000413224.3:p.Cys72Arg
ENST00000535958.2:c.*41T>C	ENSP00000513673.1:n.*41T>C
ENST00000698339.1:c.214T>C	ENSP00000513670.1:p.Cys72Arg
ENST00000698340.1:c.214T>C	ENSP00000513671.1:p.Cys72Arg
ENST00000162749.7:c.214T>C MANE Select	ENSP00000162749.2:p.Cys72Arg
ENST00000162749.6:c.214T>C	ENSP00000162749.2:p.Cys72Arg
ENST00000366159.8:c.214T>C	ENSP00000380389.3:p.Cys72Arg
ENST00000437813.7:n.175T>C
ENST00000440083.6:c.214T>C	ENSP00000413224.2:p.Cys72Arg
ENST00000534885.5:c.60T>C	ENSP00000441803.1:p.Thr20=
ENST00000535958.1:n.460T>C
ENST00000536194.1:c.194-7T>C	ENSP00000442919.1:n.194-7T>C
ENST00000539372.5:c.214T>C	ENSP00000442059.1:p.Cys72Arg
ENST00000540022.5:c.193+246T>C	ENSP00000438343.1:n.193+246T>C
ENST00000543048.5:c.214T>C	ENSP00000439981.1:p.Ter72Gln
ENST00000543995.5:c.193+246T>C	ENSP00000442405.1:n.193+246T>C
NM_001065.3:c.214T>C , LRG_193t1:c.214T>C	NP_001056.1:p.Cys72Arg
NM_001346091.1:c.-111T>C	NP_001333020.1:n.-111T>C
NM_001346092.1:c.-364T>C	NP_001333021.1:n.-364T>C
NR_144351.1:n.517T>C
NM_001065.4:c.214T>C MANE Select	NP_001056.1:p.Cys72Arg
NM_001346091.2:c.-111T>C	NP_001333020.1:n.-111T>C
NM_001346092.2:c.-364T>C	NP_001333021.1:n.-364T>C
NR_144351.2:n.476T>C