Canonical Allele Identifier: CA478113245

Gene: TNFRSF1A

Linked Data

• ClinVar Variation Id: 1641796
• ClinVar RCV Id: RCV002140342
• dbSNP Id: rs1454940336
• gnomAD v2: 12-6443396-C-G
• gnomAD v4: 12-6334230-C-G
• MyVariant Identifiers: chr12:g.6443396C>G (hg19) ; chr12:g.6334230C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.6334230C>G , CM000674.2:g.6334230C>G	GRCh38
NC_000012.11:g.6443396C>G , CM000674.1:g.6443396C>G	GRCh37
NC_000012.10:g.6313657C>G	NCBI36
NG_007506.1:g.12866G>C , LRG_193:g.12866G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000366159.9:n.88G>C
ENST00000437813.8:c.54G>C	ENSP00000513672.1:p.Leu18=
ENST00000440083.7:c.54G>C	ENSP00000413224.3:p.Leu18=
ENST00000535958.2:c.54G>C	ENSP00000513673.1:p.Leu18=
ENST00000698339.1:c.54G>C	ENSP00000513670.1:p.Leu18=
ENST00000698340.1:c.54G>C	ENSP00000513671.1:p.Leu18=
ENST00000162749.7:c.54G>C MANE Select	ENSP00000162749.2:p.Leu18=
ENST00000162749.6:c.54G>C	ENSP00000162749.2:p.Leu18=
ENST00000366159.8:c.54G>C	ENSP00000380389.3:p.Leu18=
ENST00000437813.7:n.15G>C
ENST00000440083.6:c.54G>C	ENSP00000413224.2:p.Leu18=
ENST00000534885.5:c.40-365G>C	ENSP00000441803.1:n.40-365G>C
ENST00000535958.1:n.275G>C
ENST00000536194.1:c.54G>C	ENSP00000442919.1:p.Leu18=
ENST00000538363.1:n.244G>C
ENST00000539372.5:c.54G>C	ENSP00000442059.1:p.Leu18=
ENST00000540022.5:c.54G>C	ENSP00000438343.1:p.Leu18=
ENST00000543048.5:c.54G>C	ENSP00000439981.1:p.Leu18=
ENST00000543995.5:c.54G>C	ENSP00000442405.1:p.Leu18=
NM_001065.3:c.54G>C , LRG_193t1:c.54G>C	NP_001056.1:p.Leu18=
NM_001346091.1:c.-131-365G>C	NP_001333020.1:n.-131-365G>C
NM_001346092.1:c.-524G>C	NP_001333021.1:n.-524G>C
NR_144351.1:n.357G>C
NM_001065.4:c.54G>C MANE Select	NP_001056.1:p.Leu18=
NM_001346091.2:c.-131-365G>C	NP_001333020.1:n.-131-365G>C
NM_001346092.2:c.-524G>C	NP_001333021.1:n.-524G>C
NR_144351.2:n.316G>C