Canonical Allele Identifier: CA6405421

Gene: TNFRSF1A

Linked Data

• dbSNP Id: rs771588049
• ExAC: 12:6439792 T / C
• gnomAD v2: 12-6439792-T-C
• gnomAD v4: 12-6330626-T-C
• MyVariant Identifiers: chr12:g.6439792T>C (hg19) ; chr12:g.6330626T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.6330626T>C , CM000674.2:g.6330626T>C	GRCh38
NC_000012.11:g.6439792T>C , CM000674.1:g.6439792T>C	GRCh37
NC_000012.10:g.6310053T>C	NCBI36
NG_007506.1:g.16470A>G , LRG_193:g.16470A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000366159.9:n.1812A>G
ENST00000437813.8:c.*172A>G	ENSP00000513672.1:n.*172A>G
ENST00000440083.7:c.930A>G	ENSP00000413224.3:p.Gln310=
ENST00000535038.2:n.893A>G
ENST00000535958.2:c.*538A>G	ENSP00000513673.1:n.*538A>G
ENST00000698337.1:n.701A>G
ENST00000698338.1:n.1125A>G
ENST00000698339.1:c.*206A>G	ENSP00000513670.1:n.*206A>G
ENST00000698340.1:c.637A>G	ENSP00000513671.1:p.Thr213Ala
ENST00000162749.7:c.711A>G MANE Select	ENSP00000162749.2:p.Gln237=
ENST00000162749.6:c.711A>G	ENSP00000162749.2:p.Gln237=
ENST00000534885.5:c.*188A>G	ENSP00000441803.1:n.*188A>G
ENST00000535038.1:n.522A>G
ENST00000536717.5:n.615A>G
ENST00000537842.5:n.315A>G
ENST00000539372.5:c.711A>G	ENSP00000442059.1:p.Gln237=
ENST00000540022.5:c.582A>G	ENSP00000438343.1:p.Gln194=
ENST00000543359.5:n.123A>G
ENST00000543995.5:c.*298A>G	ENSP00000442405.1:n.*298A>G
NM_001065.3:c.711A>G , LRG_193t1:c.711A>G	NP_001056.1:p.Gln237=
NM_001346091.1:c.387A>G	NP_001333020.1:p.Gln129=
NM_001346092.1:c.252A>G	NP_001333021.1:p.Gln84=
NR_144351.1:n.940A>G
NM_001065.4:c.711A>G MANE Select	NP_001056.1:p.Gln237=
NM_001346091.2:c.387A>G	NP_001333020.1:p.Gln129=
NM_001346092.2:c.252A>G	NP_001333021.1:p.Gln84=
NR_144351.2:n.899A>G