Canonical Allele Identifier: CA280871

Gene: TNFRSF1A

Linked Data

• ClinVar Variation Id: 97708
• ClinVar RCV Id: RCV000083961 ; RCV000761621
• dbSNP Id: rs104895275
• ExAC: 12:6440086 C / T
• gnomAD v2: 12-6440086-C-T
• gnomAD v3: 12-6330920-C-T
• gnomAD v4: 12-6330920-C-T
• MyVariant Identifiers: chr12:g.6440086C>T (hg19) ; chr12:g.6330920C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.6330920C>T , CM000674.2:g.6330920C>T	GRCh38
NC_000012.11:g.6440086C>T , CM000674.1:g.6440086C>T	GRCh37
NC_000012.10:g.6310347C>T	NCBI36
NG_007506.1:g.16176G>A , LRG_193:g.16176G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000366159.9:n.1659G>A
ENST00000437813.8:c.*19G>A	ENSP00000513672.1:n.*19G>A
ENST00000440083.7:c.777G>A	ENSP00000413224.3:p.Lys259=
ENST00000535038.2:n.740G>A
ENST00000535958.2:c.*385G>A	ENSP00000513673.1:n.*385G>A
ENST00000698337.1:n.407G>A
ENST00000698338.1:n.831G>A
ENST00000698339.1:c.*53G>A	ENSP00000513670.1:n.*53G>A
ENST00000698340.1:c.552-209G>A	ENSP00000513671.1:n.552-209G>A
ENST00000162749.7:c.558G>A MANE Select	ENSP00000162749.2:p.Lys186=
ENST00000162749.6:c.558G>A	ENSP00000162749.2:p.Lys186=
ENST00000534885.5:c.*35G>A	ENSP00000441803.1:n.*35G>A
ENST00000535038.1:n.228G>A
ENST00000536717.5:n.462G>A
ENST00000537842.5:n.162G>A
ENST00000539372.5:c.558G>A	ENSP00000442059.1:p.Lys186=
ENST00000540022.5:c.429G>A	ENSP00000438343.1:p.Lys143=
ENST00000543359.5:n.38-209G>A
ENST00000543995.5:c.*145G>A	ENSP00000442405.1:n.*145G>A
NM_001065.3:c.558G>A , LRG_193t1:c.558G>A	NP_001056.1:p.Lys186=
NM_001346091.1:c.234G>A	NP_001333020.1:p.Lys78=
NM_001346092.1:c.99G>A	NP_001333021.1:p.Lys33=
NR_144351.1:n.855-209G>A
NM_001065.4:c.558G>A MANE Select	NP_001056.1:p.Lys186=
NM_001346091.2:c.234G>A	NP_001333020.1:p.Lys78=
NM_001346092.2:c.99G>A	NP_001333021.1:p.Lys33=
NR_144351.2:n.814-209G>A