Canonical Allele Identifier: CA478112845

Gene: TNFRSF1A

Linked Data

• ClinVar Variation Id: 1109136
• ClinVar RCV Id: RCV001434839
• dbSNP Id: rs2136817802
• gnomAD v4: 12-6330898-A-G
• MyVariant Identifiers: chr12:g.6440064A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.6330898A>G , CM000674.2:g.6330898A>G	GRCh38
NC_000012.11:g.6440064A>G , CM000674.1:g.6440064A>G	GRCh37
NC_000012.10:g.6310325A>G	NCBI36
NG_007506.1:g.16198T>C , LRG_193:g.16198T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000366159.9:n.1681T>C
ENST00000437813.8:c.*41T>C	ENSP00000513672.1:n.*41T>C
ENST00000440083.7:c.799T>C	ENSP00000413224.3:p.Leu267=
ENST00000535038.2:n.762T>C
ENST00000535958.2:c.*407T>C	ENSP00000513673.1:n.*407T>C
ENST00000698337.1:n.429T>C
ENST00000698338.1:n.853T>C
ENST00000698339.1:c.*75T>C	ENSP00000513670.1:n.*75T>C
ENST00000698340.1:c.552-187T>C	ENSP00000513671.1:n.552-187T>C
ENST00000162749.7:c.580T>C MANE Select	ENSP00000162749.2:p.Leu194=
ENST00000162749.6:c.580T>C	ENSP00000162749.2:p.Leu194=
ENST00000534885.5:c.*57T>C	ENSP00000441803.1:n.*57T>C
ENST00000535038.1:n.250T>C
ENST00000536717.5:n.484T>C
ENST00000537842.5:n.184T>C
ENST00000539372.5:c.580T>C	ENSP00000442059.1:p.Leu194=
ENST00000540022.5:c.451T>C	ENSP00000438343.1:p.Leu151=
ENST00000543359.5:n.38-187T>C
ENST00000543995.5:c.*167T>C	ENSP00000442405.1:n.*167T>C
NM_001065.3:c.580T>C , LRG_193t1:c.580T>C	NP_001056.1:p.Leu194=
NM_001346091.1:c.256T>C	NP_001333020.1:p.Leu86=
NM_001346092.1:c.121T>C	NP_001333021.1:p.Leu41=
NR_144351.1:n.855-187T>C
NM_001065.4:c.580T>C MANE Select	NP_001056.1:p.Leu194=
NM_001346091.2:c.256T>C	NP_001333020.1:p.Leu86=
NM_001346092.2:c.121T>C	NP_001333021.1:p.Leu41=
NR_144351.2:n.814-187T>C