Canonical Allele Identifier: CA232330609

Gene: TNFRSF1A

Linked Data

• ClinVar Variation Id: 2182644
• ClinVar RCV Id: RCV002610954
• dbSNP Id: rs200490089
• gnomAD v4: 12-6333846-G-A
• COSMIC: COSM942435
• MyVariant Identifiers: chr12:g.6443012G>A (hg19) ; chr12:g.6333846G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.6333846G>A , CM000674.2:g.6333846G>A	GRCh38
NC_000012.11:g.6443012G>A , CM000674.1:g.6443012G>A	GRCh37
NC_000012.10:g.6313273G>A	NCBI36
NG_007506.1:g.13250C>T , LRG_193:g.13250C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000366159.9:n.247C>T
ENST00000437813.8:c.213C>T	ENSP00000513672.1:p.Asp71=
ENST00000440083.7:c.213C>T	ENSP00000413224.3:p.Asp71=
ENST00000535958.2:c.*40C>T	ENSP00000513673.1:n.*40C>T
ENST00000698339.1:c.213C>T	ENSP00000513670.1:p.Asp71=
ENST00000698340.1:c.213C>T	ENSP00000513671.1:p.Asp71=
ENST00000162749.7:c.213C>T MANE Select	ENSP00000162749.2:p.Asp71=
ENST00000162749.6:c.213C>T	ENSP00000162749.2:p.Asp71=
ENST00000366159.8:c.213C>T	ENSP00000380389.3:p.Asp71=
ENST00000437813.7:n.174C>T
ENST00000440083.6:c.213C>T	ENSP00000413224.2:p.Asp71=
ENST00000534885.5:c.59C>T	ENSP00000441803.1:p.Thr20Ile
ENST00000535958.1:n.459C>T
ENST00000536194.1:c.194-8C>T	ENSP00000442919.1:n.194-8C>T
ENST00000539372.5:c.213C>T	ENSP00000442059.1:p.Asp71=
ENST00000540022.5:c.193+245C>T	ENSP00000438343.1:n.193+245C>T
ENST00000543048.5:c.213C>T	ENSP00000439981.1:p.Asp71=
ENST00000543995.5:c.193+245C>T	ENSP00000442405.1:n.193+245C>T
NM_001065.3:c.213C>T , LRG_193t1:c.213C>T	NP_001056.1:p.Asp71=
NM_001346091.1:c.-112C>T	NP_001333020.1:n.-112C>T
NM_001346092.1:c.-365C>T	NP_001333021.1:n.-365C>T
NR_144351.1:n.516C>T
NM_001065.4:c.213C>T MANE Select	NP_001056.1:p.Asp71=
NM_001346091.2:c.-112C>T	NP_001333020.1:n.-112C>T
NM_001346092.2:c.-365C>T	NP_001333021.1:n.-365C>T
NR_144351.2:n.475C>T