Canonical Allele Identifier: CA6405306

Gene: TNFRSF1A

Linked Data

• dbSNP Id: rs757006626
• ExAC: 12:6438982 T / C
• gnomAD v2: 12-6438982-T-C
• gnomAD v4: 12-6329816-T-C
• MyVariant Identifiers: chr12:g.6438982T>C (hg19) ; chr12:g.6329816T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.6329816T>C , CM000674.2:g.6329816T>C	GRCh38
NC_000012.11:g.6438982T>C , CM000674.1:g.6438982T>C	GRCh37
NC_000012.10:g.6309243T>C	NCBI36
NG_007506.1:g.17280A>G , LRG_193:g.17280A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000366159.9:n.2120A>G
ENST00000437813.8:c.*480A>G	ENSP00000513672.1:n.*480A>G
ENST00000440083.7:c.1238A>G	ENSP00000413224.3:p.Lys413Arg
ENST00000535958.2:c.*846A>G	ENSP00000513673.1:n.*846A>G
ENST00000698337.1:n.980A>G
ENST00000698338.1:n.1633A>G
ENST00000698339.1:c.*514A>G	ENSP00000513670.1:n.*514A>G
ENST00000698340.1:c.*258A>G	ENSP00000513671.1:n.*258A>G
ENST00000162749.7:c.1019A>G MANE Select	ENSP00000162749.2:p.Lys340Arg
ENST00000162749.6:c.1019A>G	ENSP00000162749.2:p.Lys340Arg
ENST00000534885.5:c.*496A>G	ENSP00000441803.1:n.*496A>G
ENST00000536717.5:n.923A>G
ENST00000540022.5:c.890A>G	ENSP00000438343.1:p.Lys297Arg
ENST00000543359.5:n.431A>G
ENST00000543995.5:c.*606A>G	ENSP00000442405.1:n.*606A>G
NM_001065.3:c.1019A>G , LRG_193t1:c.1019A>G	NP_001056.1:p.Lys340Arg
NM_001346091.1:c.695A>G	NP_001333020.1:p.Lys232Arg
NM_001346092.1:c.560A>G	NP_001333021.1:p.Lys187Arg
NR_144351.1:n.1248A>G
NM_001065.4:c.1019A>G MANE Select	NP_001056.1:p.Lys340Arg
NM_001346091.2:c.695A>G	NP_001333020.1:p.Lys232Arg
NM_001346092.2:c.560A>G	NP_001333021.1:p.Lys187Arg
NR_144351.2:n.1207A>G