Canonical Allele Identifier: CA383547799

Gene: TNFRSF1A

Linked Data

• ClinVar Variation Id: 523630
• ClinVar RCV Id: RCV000627060
• dbSNP Id: rs1555107565
• gnomAD v4: 12-6330687-A-G
• MyVariant Identifiers: chr12:g.6439853A>G (hg19) ; chr12:g.6330687A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.6330687A>G , CM000674.2:g.6330687A>G	GRCh38
NC_000012.11:g.6439853A>G , CM000674.1:g.6439853A>G	GRCh37
NC_000012.10:g.6310114A>G	NCBI36
NG_007506.1:g.16409T>C , LRG_193:g.16409T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000366159.9:n.1751T>C
ENST00000437813.8:c.*111T>C	ENSP00000513672.1:n.*111T>C
ENST00000440083.7:c.869T>C	ENSP00000413224.3:p.Val290Ala
ENST00000535038.2:n.832T>C
ENST00000535958.2:c.*477T>C	ENSP00000513673.1:n.*477T>C
ENST00000698337.1:n.640T>C
ENST00000698338.1:n.1064T>C
ENST00000698339.1:c.*145T>C	ENSP00000513670.1:n.*145T>C
ENST00000698340.1:c.576T>C	ENSP00000513671.1:p.Gly192=
ENST00000162749.7:c.650T>C MANE Select	ENSP00000162749.2:p.Val217Ala
ENST00000162749.6:c.650T>C	ENSP00000162749.2:p.Val217Ala
ENST00000534885.5:c.*127T>C	ENSP00000441803.1:n.*127T>C
ENST00000535038.1:n.461T>C
ENST00000536717.5:n.554T>C
ENST00000537842.5:n.254T>C
ENST00000539372.5:c.650T>C	ENSP00000442059.1:p.Val217Ala
ENST00000540022.5:c.521T>C	ENSP00000438343.1:p.Val174Ala
ENST00000543359.5:n.62T>C
ENST00000543995.5:c.*237T>C	ENSP00000442405.1:n.*237T>C
NM_001065.3:c.650T>C , LRG_193t1:c.650T>C	NP_001056.1:p.Val217Ala
NM_001346091.1:c.326T>C	NP_001333020.1:p.Val109Ala
NM_001346092.1:c.191T>C	NP_001333021.1:p.Val64Ala
NR_144351.1:n.879T>C
NM_001065.4:c.650T>C MANE Select	NP_001056.1:p.Val217Ala
NM_001346091.2:c.326T>C	NP_001333020.1:p.Val109Ala
NM_001346092.2:c.191T>C	NP_001333021.1:p.Val64Ala
NR_144351.2:n.838T>C