Canonical Allele Identifier: CA383547677

Gene: TNFRSF1A

Linked Data

• ClinVar Variation Id: 2663662
• ClinVar RCV Id: RCV003443378 ; RCV003624523
• dbSNP Id: rs1382851653
• gnomAD v4: 12-6330658-G-C
• MyVariant Identifiers: chr12:g.6439824G>C (hg19) ; chr12:g.6330658G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.6330658G>C , CM000674.2:g.6330658G>C	GRCh38
NC_000012.11:g.6439824G>C , CM000674.1:g.6439824G>C	GRCh37
NC_000012.10:g.6310085G>C	NCBI36
NG_007506.1:g.16438C>G , LRG_193:g.16438C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000366159.9:n.1780C>G
ENST00000437813.8:c.*140C>G	ENSP00000513672.1:n.*140C>G
ENST00000440083.7:c.898C>G	ENSP00000413224.3:p.Leu300Val
ENST00000535038.2:n.861C>G
ENST00000535958.2:c.*506C>G	ENSP00000513673.1:n.*506C>G
ENST00000698337.1:n.669C>G
ENST00000698338.1:n.1093C>G
ENST00000698339.1:c.*174C>G	ENSP00000513670.1:n.*174C>G
ENST00000698340.1:c.605C>G	ENSP00000513671.1:p.Pro202Arg
ENST00000162749.7:c.679C>G MANE Select	ENSP00000162749.2:p.Leu227Val
ENST00000162749.6:c.679C>G	ENSP00000162749.2:p.Leu227Val
ENST00000534885.5:c.*156C>G	ENSP00000441803.1:n.*156C>G
ENST00000535038.1:n.490C>G
ENST00000536717.5:n.583C>G
ENST00000537842.5:n.283C>G
ENST00000539372.5:c.679C>G	ENSP00000442059.1:p.Leu227Val
ENST00000540022.5:c.550C>G	ENSP00000438343.1:p.Leu184Val
ENST00000543359.5:n.91C>G
ENST00000543995.5:c.*266C>G	ENSP00000442405.1:n.*266C>G
NM_001065.3:c.679C>G , LRG_193t1:c.679C>G	NP_001056.1:p.Leu227Val
NM_001346091.1:c.355C>G	NP_001333020.1:p.Leu119Val
NM_001346092.1:c.220C>G	NP_001333021.1:p.Leu74Val
NR_144351.1:n.908C>G
NM_001065.4:c.679C>G MANE Select	NP_001056.1:p.Leu227Val
NM_001346091.2:c.355C>G	NP_001333020.1:p.Leu119Val
NM_001346092.2:c.220C>G	NP_001333021.1:p.Leu74Val
NR_144351.2:n.867C>G