Canonical Allele Identifier: CA383548013

Gene: TNFRSF1A

Linked Data

• ClinVar Variation Id: 1004791
• ClinVar RCV Id: RCV001301554
• dbSNP Id: rs1948041880
• gnomAD v4: 12-6330874-C-T
• MyVariant Identifiers: chr12:g.6440040C>T (hg19) ; chr12:g.6330874C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.6330874C>T , CM000674.2:g.6330874C>T	GRCh38
NC_000012.11:g.6440040C>T , CM000674.1:g.6440040C>T	GRCh37
NC_000012.10:g.6310301C>T	NCBI36
NG_007506.1:g.16222G>A , LRG_193:g.16222G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000366159.9:n.1705G>A
ENST00000437813.8:c.*65G>A	ENSP00000513672.1:n.*65G>A
ENST00000440083.7:c.823G>A	ENSP00000413224.3:p.Val275Ile
ENST00000535038.2:n.786G>A
ENST00000535958.2:c.*431G>A	ENSP00000513673.1:n.*431G>A
ENST00000698337.1:n.453G>A
ENST00000698338.1:n.877G>A
ENST00000698339.1:c.*99G>A	ENSP00000513670.1:n.*99G>A
ENST00000698340.1:c.552-163G>A	ENSP00000513671.1:n.552-163G>A
ENST00000162749.7:c.604G>A MANE Select	ENSP00000162749.2:p.Val202Ile
ENST00000162749.6:c.604G>A	ENSP00000162749.2:p.Val202Ile
ENST00000534885.5:c.*81G>A	ENSP00000441803.1:n.*81G>A
ENST00000535038.1:n.274G>A
ENST00000536717.5:n.508G>A
ENST00000537842.5:n.208G>A
ENST00000539372.5:c.604G>A	ENSP00000442059.1:p.Val202Ile
ENST00000540022.5:c.475G>A	ENSP00000438343.1:p.Val159Ile
ENST00000543359.5:n.38-163G>A
ENST00000543995.5:c.*191G>A	ENSP00000442405.1:n.*191G>A
NM_001065.3:c.604G>A , LRG_193t1:c.604G>A	NP_001056.1:p.Val202Ile
NM_001346091.1:c.280G>A	NP_001333020.1:p.Val94Ile
NM_001346092.1:c.145G>A	NP_001333021.1:p.Val49Ile
NR_144351.1:n.855-163G>A
NM_001065.4:c.604G>A MANE Select	NP_001056.1:p.Val202Ile
NM_001346091.2:c.280G>A	NP_001333020.1:p.Val94Ile
NM_001346092.2:c.145G>A	NP_001333021.1:p.Val49Ile
NR_144351.2:n.814-163G>A