Canonical Allele Identifier: CA478111768

Gene: TNFRSF1A

Linked Data

• ClinVar Variation Id: 2875386
• ClinVar RCV Id: RCV003623995
• dbSNP Id: rs1948037312
• gnomAD v4: 12-6330605-G-A
• MyVariant Identifiers: chr12:g.6439771G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.6330605G>A , CM000674.2:g.6330605G>A	GRCh38
NC_000012.11:g.6439771G>A , CM000674.1:g.6439771G>A	GRCh37
NC_000012.10:g.6310032G>A	NCBI36
NG_007506.1:g.16491C>T , LRG_193:g.16491C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000366159.9:n.1833C>T
ENST00000437813.8:c.*193C>T	ENSP00000513672.1:n.*193C>T
ENST00000440083.7:c.951C>T	ENSP00000413224.3:p.Tyr317=
ENST00000535038.2:n.914C>T
ENST00000535958.2:c.*559C>T	ENSP00000513673.1:n.*559C>T
ENST00000698337.1:n.722C>T
ENST00000698338.1:n.1146C>T
ENST00000698339.1:c.*227C>T	ENSP00000513670.1:n.*227C>T
ENST00000698340.1:c.658C>T	ENSP00000513671.1:p.Leu220Phe
ENST00000162749.7:c.732C>T MANE Select	ENSP00000162749.2:p.Tyr244=
ENST00000162749.6:c.732C>T	ENSP00000162749.2:p.Tyr244=
ENST00000534885.5:c.*209C>T	ENSP00000441803.1:n.*209C>T
ENST00000535038.1:n.543C>T
ENST00000536717.5:n.636C>T
ENST00000537842.5:n.336C>T
ENST00000539372.5:c.732C>T	ENSP00000442059.1:p.Tyr244=
ENST00000540022.5:c.603C>T	ENSP00000438343.1:p.Tyr201=
ENST00000543359.5:n.144C>T
ENST00000543995.5:c.*319C>T	ENSP00000442405.1:n.*319C>T
NM_001065.3:c.732C>T , LRG_193t1:c.732C>T	NP_001056.1:p.Tyr244=
NM_001346091.1:c.408C>T	NP_001333020.1:p.Tyr136=
NM_001346092.1:c.273C>T	NP_001333021.1:p.Tyr91=
NR_144351.1:n.961C>T
NM_001065.4:c.732C>T MANE Select	NP_001056.1:p.Tyr244=
NM_001346091.2:c.408C>T	NP_001333020.1:p.Tyr136=
NM_001346092.2:c.273C>T	NP_001333021.1:p.Tyr91=
NR_144351.2:n.920C>T