Canonical Allele Identifier: CA383548168

Gene: TNFRSF1A

Linked Data

• dbSNP Id: rs1948042781
• gnomAD v4: 12-6330918-T-C
• MyVariant Identifiers: chr12:g.6440084T>C (hg19) ; chr12:g.6330918T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.6330918T>C , CM000674.2:g.6330918T>C	GRCh38
NC_000012.11:g.6440084T>C , CM000674.1:g.6440084T>C	GRCh37
NC_000012.10:g.6310345T>C	NCBI36
NG_007506.1:g.16178A>G , LRG_193:g.16178A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000366159.9:n.1661A>G
ENST00000437813.8:c.*21A>G	ENSP00000513672.1:n.*21A>G
ENST00000440083.7:c.779A>G	ENSP00000413224.3:p.Lys260Arg
ENST00000535038.2:n.742A>G
ENST00000535958.2:c.*387A>G	ENSP00000513673.1:n.*387A>G
ENST00000698337.1:n.409A>G
ENST00000698338.1:n.833A>G
ENST00000698339.1:c.*55A>G	ENSP00000513670.1:n.*55A>G
ENST00000698340.1:c.552-207A>G	ENSP00000513671.1:n.552-207A>G
ENST00000162749.7:c.560A>G MANE Select	ENSP00000162749.2:p.Lys187Arg
ENST00000162749.6:c.560A>G	ENSP00000162749.2:p.Lys187Arg
ENST00000534885.5:c.*37A>G	ENSP00000441803.1:n.*37A>G
ENST00000535038.1:n.230A>G
ENST00000536717.5:n.464A>G
ENST00000537842.5:n.164A>G
ENST00000539372.5:c.560A>G	ENSP00000442059.1:p.Lys187Arg
ENST00000540022.5:c.431A>G	ENSP00000438343.1:p.Lys144Arg
ENST00000543359.5:n.38-207A>G
ENST00000543995.5:c.*147A>G	ENSP00000442405.1:n.*147A>G
NM_001065.3:c.560A>G , LRG_193t1:c.560A>G	NP_001056.1:p.Lys187Arg
NM_001346091.1:c.236A>G	NP_001333020.1:p.Lys79Arg
NM_001346092.1:c.101A>G	NP_001333021.1:p.Lys34Arg
NR_144351.1:n.855-207A>G
NM_001065.4:c.560A>G MANE Select	NP_001056.1:p.Lys187Arg
NM_001346091.2:c.236A>G	NP_001333020.1:p.Lys79Arg
NM_001346092.2:c.101A>G	NP_001333021.1:p.Lys34Arg
NR_144351.2:n.814-207A>G