Canonical Allele Identifier: CA6405375

Gene: TNFRSF1A

Linked Data

• ClinVar Variation Id: 310110
• ClinVar RCV Id: RCV000373704 ; RCV001612985
• dbSNP Id: rs201358363
• ExAC: 12:6439448 C / T
• gnomAD v2: 12-6439448-C-T
• gnomAD v3: 12-6330282-C-T
• gnomAD v4: 12-6330282-C-T
• COSMIC: COSM4044116
• MyVariant Identifiers: chr12:g.6439448C>T (hg19) ; chr12:g.6330282C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.6330282C>T , CM000674.2:g.6330282C>T	GRCh38
NC_000012.11:g.6439448C>T , CM000674.1:g.6439448C>T	GRCh37
NC_000012.10:g.6309709C>T	NCBI36
NG_007506.1:g.16814G>A , LRG_193:g.16814G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000366159.9:n.1854G>A
ENST00000437813.8:c.*214G>A	ENSP00000513672.1:n.*214G>A
ENST00000440083.7:c.972G>A	ENSP00000413224.3:p.Ser324=
ENST00000535038.2:n.935G>A
ENST00000535958.2:c.*580G>A	ENSP00000513673.1:n.*580G>A
ENST00000698337.1:n.730-216G>A
ENST00000698338.1:n.1167G>A
ENST00000698339.1:c.*248G>A	ENSP00000513670.1:n.*248G>A
ENST00000698340.1:c.679G>A	ENSP00000513671.1:p.Asp227Asn
ENST00000162749.7:c.753G>A MANE Select	ENSP00000162749.2:p.Ser251=
ENST00000162749.6:c.753G>A	ENSP00000162749.2:p.Ser251=
ENST00000534885.5:c.*230G>A	ENSP00000441803.1:n.*230G>A
ENST00000535038.1:n.564G>A
ENST00000536717.5:n.657G>A
ENST00000537842.5:n.357G>A
ENST00000540022.5:c.624G>A	ENSP00000438343.1:p.Ser208=
ENST00000543359.5:n.165G>A
ENST00000543995.5:c.*340G>A	ENSP00000442405.1:n.*340G>A
NM_001065.3:c.753G>A , LRG_193t1:c.753G>A	NP_001056.1:p.Ser251=
NM_001346091.1:c.429G>A	NP_001333020.1:p.Ser143=
NM_001346092.1:c.294G>A	NP_001333021.1:p.Ser98=
NR_144351.1:n.982G>A
NM_001065.4:c.753G>A MANE Select	NP_001056.1:p.Ser251=
NM_001346091.2:c.429G>A	NP_001333020.1:p.Ser143=
NM_001346092.2:c.294G>A	NP_001333021.1:p.Ser98=
NR_144351.2:n.941G>A