Canonical Allele Identifier: CA383547508

Gene: TNFRSF1A

Linked Data

• dbSNP Id: rs1233980955
• gnomAD v2: 12-6439781-G-A
• gnomAD v3: 12-6330615-G-A
• gnomAD v4: 12-6330615-G-A
• MyVariant Identifiers: chr12:g.6439781G>A (hg19) ; chr12:g.6330615G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.6330615G>A , CM000674.2:g.6330615G>A	GRCh38
NC_000012.11:g.6439781G>A , CM000674.1:g.6439781G>A	GRCh37
NC_000012.10:g.6310042G>A	NCBI36
NG_007506.1:g.16481C>T , LRG_193:g.16481C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000366159.9:n.1823C>T
ENST00000437813.8:c.*183C>T	ENSP00000513672.1:n.*183C>T
ENST00000440083.7:c.941C>T	ENSP00000413224.3:p.Ser314Phe
ENST00000535038.2:n.904C>T
ENST00000535958.2:c.*549C>T	ENSP00000513673.1:n.*549C>T
ENST00000698337.1:n.712C>T
ENST00000698338.1:n.1136C>T
ENST00000698339.1:c.*217C>T	ENSP00000513670.1:n.*217C>T
ENST00000698340.1:c.648C>T	ENSP00000513671.1:p.Val216=
ENST00000162749.7:c.722C>T MANE Select	ENSP00000162749.2:p.Ser241Phe
ENST00000162749.6:c.722C>T	ENSP00000162749.2:p.Ser241Phe
ENST00000534885.5:c.*199C>T	ENSP00000441803.1:n.*199C>T
ENST00000535038.1:n.533C>T
ENST00000536717.5:n.626C>T
ENST00000537842.5:n.326C>T
ENST00000539372.5:c.722C>T	ENSP00000442059.1:p.Ser241Phe
ENST00000540022.5:c.593C>T	ENSP00000438343.1:p.Ser198Phe
ENST00000543359.5:n.134C>T
ENST00000543995.5:c.*309C>T	ENSP00000442405.1:n.*309C>T
NM_001065.3:c.722C>T , LRG_193t1:c.722C>T	NP_001056.1:p.Ser241Phe
NM_001346091.1:c.398C>T	NP_001333020.1:p.Ser133Phe
NM_001346092.1:c.263C>T	NP_001333021.1:p.Ser88Phe
NR_144351.1:n.951C>T
NM_001065.4:c.722C>T MANE Select	NP_001056.1:p.Ser241Phe
NM_001346091.2:c.398C>T	NP_001333020.1:p.Ser133Phe
NM_001346092.2:c.263C>T	NP_001333021.1:p.Ser88Phe
NR_144351.2:n.910C>T