Canonical Allele Identifier: CA6405427

Gene: TNFRSF1A

Linked Data

• ClinVar Variation Id: 513478
• ClinVar RCV Id: RCV000609663 ; RCV001297903
• dbSNP Id: rs766811013
• ExAC: 12:6439816 G / T
• gnomAD v2: 12-6439816-G-T
• gnomAD v4: 12-6330650-G-T
• MyVariant Identifiers: chr12:g.6439816G>T (hg19) ; chr12:g.6330650G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.6330650G>T , CM000674.2:g.6330650G>T	GRCh38
NC_000012.11:g.6439816G>T , CM000674.1:g.6439816G>T	GRCh37
NC_000012.10:g.6310077G>T	NCBI36
NG_007506.1:g.16446C>A , LRG_193:g.16446C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000366159.9:n.1788C>A
ENST00000437813.8:c.*148C>A	ENSP00000513672.1:n.*148C>A
ENST00000440083.7:c.906C>A	ENSP00000413224.3:p.Phe302Leu
ENST00000535038.2:n.869C>A
ENST00000535958.2:c.*514C>A	ENSP00000513673.1:n.*514C>A
ENST00000698337.1:n.677C>A
ENST00000698338.1:n.1101C>A
ENST00000698339.1:c.*182C>A	ENSP00000513670.1:n.*182C>A
ENST00000698340.1:c.613C>A	ENSP00000513671.1:p.His205Asn
ENST00000162749.7:c.687C>A MANE Select	ENSP00000162749.2:p.Phe229Leu
ENST00000162749.6:c.687C>A	ENSP00000162749.2:p.Phe229Leu
ENST00000534885.5:c.*164C>A	ENSP00000441803.1:n.*164C>A
ENST00000535038.1:n.498C>A
ENST00000536717.5:n.591C>A
ENST00000537842.5:n.291C>A
ENST00000539372.5:c.687C>A	ENSP00000442059.1:p.Phe229Leu
ENST00000540022.5:c.558C>A	ENSP00000438343.1:p.Phe186Leu
ENST00000543359.5:n.99C>A
ENST00000543995.5:c.*274C>A	ENSP00000442405.1:n.*274C>A
NM_001065.3:c.687C>A , LRG_193t1:c.687C>A	NP_001056.1:p.Phe229Leu
NM_001346091.1:c.363C>A	NP_001333020.1:p.Phe121Leu
NM_001346092.1:c.228C>A	NP_001333021.1:p.Phe76Leu
NR_144351.1:n.916C>A
NM_001065.4:c.687C>A MANE Select	NP_001056.1:p.Phe229Leu
NM_001346091.2:c.363C>A	NP_001333020.1:p.Phe121Leu
NM_001346092.2:c.228C>A	NP_001333021.1:p.Phe76Leu
NR_144351.2:n.875C>A