Canonical Allele Identifier: CA6405483

Gene: TNFRSF1A

Linked Data

• ClinVar Variation Id: 310111
• ClinVar RCV Id: RCV000395620
• dbSNP Id: rs538872981
• ExAC: 12:6442254 C / T
• gnomAD v2: 12-6442254-C-T
• gnomAD v3: 12-6333088-C-T
• gnomAD v4: 12-6333088-C-T
• COSMIC: COSM5841689
• MyVariant Identifiers: chr12:g.6442254C>T (hg19) ; chr12:g.6333088C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.6333088C>T , CM000674.2:g.6333088C>T	GRCh38
NC_000012.11:g.6442254C>T , CM000674.1:g.6442254C>T	GRCh37
NC_000012.10:g.6312515C>T	NCBI36
NG_007506.1:g.14008G>A , LRG_193:g.14008G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000366159.9:n.566G>A
ENST00000437813.8:c.532G>A	ENSP00000513672.1:p.Glu178Lys
ENST00000440083.7:c.751G>A	ENSP00000413224.3:p.Glu251Lys
ENST00000535958.2:c.*359G>A	ENSP00000513673.1:n.*359G>A
ENST00000698339.1:c.532G>A	ENSP00000513670.1:p.Glu178Lys
ENST00000698340.1:c.532G>A	ENSP00000513671.1:p.Glu178Lys
ENST00000162749.7:c.532G>A MANE Select	ENSP00000162749.2:p.Glu178Lys
ENST00000162749.6:c.532G>A	ENSP00000162749.2:p.Glu178Lys
ENST00000366159.8:c.532G>A	ENSP00000380389.3:p.Glu178Lys
ENST00000437813.7:n.493G>A
ENST00000440083.6:c.751G>A	ENSP00000413224.2:p.Glu251Lys
ENST00000534885.5:c.*9G>A	ENSP00000441803.1:n.*9G>A
ENST00000537842.5:n.136G>A
ENST00000539372.5:c.532G>A	ENSP00000442059.1:p.Glu178Lys
ENST00000540022.5:c.403G>A	ENSP00000438343.1:p.Glu135Lys
ENST00000543048.5:c.*143G>A	ENSP00000439981.1:n.*143G>A
ENST00000543359.5:n.18G>A
ENST00000543995.5:c.*119G>A	ENSP00000442405.1:n.*119G>A
NM_001065.3:c.532G>A , LRG_193t1:c.532G>A	NP_001056.1:p.Glu178Lys
NM_001346091.1:c.208G>A	NP_001333020.1:p.Glu70Lys
NM_001346092.1:c.-46G>A	NP_001333021.1:n.-46G>A
NR_144351.1:n.835G>A
NM_001065.4:c.532G>A MANE Select	NP_001056.1:p.Glu178Lys
NM_001346091.2:c.208G>A	NP_001333020.1:p.Glu70Lys
NM_001346092.2:c.-46G>A	NP_001333021.1:n.-46G>A
NR_144351.2:n.794G>A