Canonical Allele Identifier: CA6405325

Gene: TNFRSF1A

Linked Data

• dbSNP Id: rs200325098
• ExAC: 12:6439083 G / A
• gnomAD v2: 12-6439083-G-A
• gnomAD v4: 12-6329917-G-A
• MyVariant Identifiers: chr12:g.6439083G>A (hg19) ; chr12:g.6329917G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.6329917G>A , CM000674.2:g.6329917G>A	GRCh38
NC_000012.11:g.6439083G>A , CM000674.1:g.6439083G>A	GRCh37
NC_000012.10:g.6309344G>A	NCBI36
NG_007506.1:g.17179C>T , LRG_193:g.17179C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000366159.9:n.2019C>T
ENST00000437813.8:c.*379C>T	ENSP00000513672.1:n.*379C>T
ENST00000440083.7:c.1137C>T	ENSP00000413224.3:p.Asn379=
ENST00000535958.2:c.*745C>T	ENSP00000513673.1:n.*745C>T
ENST00000698337.1:n.879C>T
ENST00000698338.1:n.1532C>T
ENST00000698339.1:c.*413C>T	ENSP00000513670.1:n.*413C>T
ENST00000698340.1:c.*157C>T	ENSP00000513671.1:n.*157C>T
ENST00000162749.7:c.918C>T MANE Select	ENSP00000162749.2:p.Asn306=
ENST00000162749.6:c.918C>T	ENSP00000162749.2:p.Asn306=
ENST00000534885.5:c.*395C>T	ENSP00000441803.1:n.*395C>T
ENST00000536717.5:n.822C>T
ENST00000537842.5:n.373-18C>T
ENST00000540022.5:c.789C>T	ENSP00000438343.1:p.Asn263=
ENST00000543359.5:n.330C>T
ENST00000543995.5:c.*505C>T	ENSP00000442405.1:n.*505C>T
NM_001065.3:c.918C>T , LRG_193t1:c.918C>T	NP_001056.1:p.Asn306=
NM_001346091.1:c.594C>T	NP_001333020.1:p.Asn198=
NM_001346092.1:c.459C>T	NP_001333021.1:p.Asn153=
NR_144351.1:n.1147C>T
NM_001065.4:c.918C>T MANE Select	NP_001056.1:p.Asn306=
NM_001346091.2:c.594C>T	NP_001333020.1:p.Asn198=
NM_001346092.2:c.459C>T	NP_001333021.1:p.Asn153=
NR_144351.2:n.1106C>T