Canonical Allele Identifier: CA6405484

Gene: TNFRSF1A

Linked Data

• ClinVar Variation Id: 1141964
• ClinVar RCV Id: RCV001479578
• dbSNP Id: rs138918985
• ExAC: 12:6442255 G / A
• gnomAD v2: 12-6442255-G-A
• gnomAD v3: 12-6333089-G-A
• gnomAD v4: 12-6333089-G-A
• MyVariant Identifiers: chr12:g.6442255G>A (hg19) ; chr12:g.6333089G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.6333089G>A , CM000674.2:g.6333089G>A	GRCh38
NC_000012.11:g.6442255G>A , CM000674.1:g.6442255G>A	GRCh37
NC_000012.10:g.6312516G>A	NCBI36
NG_007506.1:g.14007C>T , LRG_193:g.14007C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000366159.9:n.565C>T
ENST00000437813.8:c.531C>T	ENSP00000513672.1:p.Asn177=
ENST00000440083.7:c.750C>T	ENSP00000413224.3:p.Asn250=
ENST00000535958.2:c.*358C>T	ENSP00000513673.1:n.*358C>T
ENST00000698339.1:c.531C>T	ENSP00000513670.1:p.Asn177=
ENST00000698340.1:c.531C>T	ENSP00000513671.1:p.Asn177=
ENST00000162749.7:c.531C>T MANE Select	ENSP00000162749.2:p.Asn177=
ENST00000162749.6:c.531C>T	ENSP00000162749.2:p.Asn177=
ENST00000366159.8:c.531C>T	ENSP00000380389.3:p.Asn177=
ENST00000437813.7:n.492C>T
ENST00000440083.6:c.750C>T	ENSP00000413224.2:p.Asn250=
ENST00000534885.5:c.*8C>T	ENSP00000441803.1:n.*8C>T
ENST00000537842.5:n.135C>T
ENST00000539372.5:c.531C>T	ENSP00000442059.1:p.Asn177=
ENST00000540022.5:c.402C>T	ENSP00000438343.1:p.Asn134=
ENST00000543048.5:c.*142C>T	ENSP00000439981.1:n.*142C>T
ENST00000543359.5:n.17C>T
ENST00000543995.5:c.*118C>T	ENSP00000442405.1:n.*118C>T
NM_001065.3:c.531C>T , LRG_193t1:c.531C>T	NP_001056.1:p.Asn177=
NM_001346091.1:c.207C>T	NP_001333020.1:p.Asn69=
NM_001346092.1:c.-47C>T	NP_001333021.1:n.-47C>T
NR_144351.1:n.834C>T
NM_001065.4:c.531C>T MANE Select	NP_001056.1:p.Asn177=
NM_001346091.2:c.207C>T	NP_001333020.1:p.Asn69=
NM_001346092.2:c.-47C>T	NP_001333021.1:n.-47C>T
NR_144351.2:n.793C>T