Canonical Allele Identifier: CA6405485

Gene: TNFRSF1A

Linked Data

• dbSNP Id: rs761906638
• ExAC: 12:6442270 G / C
• gnomAD v2: 12-6442270-G-C
• gnomAD v4: 12-6333104-G-C
• MyVariant Identifiers: chr12:g.6442270G>C (hg19) ; chr12:g.6333104G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.6333104G>C , CM000674.2:g.6333104G>C	GRCh38
NC_000012.11:g.6442270G>C , CM000674.1:g.6442270G>C	GRCh37
NC_000012.10:g.6312531G>C	NCBI36
NG_007506.1:g.13992C>G , LRG_193:g.13992C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000366159.9:n.550C>G
ENST00000437813.8:c.516C>G	ENSP00000513672.1:p.Phe172Leu
ENST00000440083.7:c.735C>G	ENSP00000413224.3:p.Phe245Leu
ENST00000535958.2:c.*343C>G	ENSP00000513673.1:n.*343C>G
ENST00000698339.1:c.516C>G	ENSP00000513670.1:p.Phe172Leu
ENST00000698340.1:c.516C>G	ENSP00000513671.1:p.Phe172Leu
ENST00000162749.7:c.516C>G MANE Select	ENSP00000162749.2:p.Phe172Leu
ENST00000162749.6:c.516C>G	ENSP00000162749.2:p.Phe172Leu
ENST00000366159.8:c.516C>G	ENSP00000380389.3:p.Phe172Leu
ENST00000437813.7:n.477C>G
ENST00000440083.6:c.735C>G	ENSP00000413224.2:p.Phe245Leu
ENST00000534885.5:c.362C>G	ENSP00000441803.1:p.Ser121Cys
ENST00000537842.5:n.120C>G
ENST00000539372.5:c.516C>G	ENSP00000442059.1:p.Phe172Leu
ENST00000540022.5:c.387C>G	ENSP00000438343.1:p.Phe129Leu
ENST00000543048.5:c.*127C>G	ENSP00000439981.1:n.*127C>G
ENST00000543359.5:n.2C>G
ENST00000543995.5:c.*103C>G	ENSP00000442405.1:n.*103C>G
NM_001065.3:c.516C>G , LRG_193t1:c.516C>G	NP_001056.1:p.Phe172Leu
NM_001346091.1:c.192C>G	NP_001333020.1:p.Phe64Leu
NM_001346092.1:c.-62C>G	NP_001333021.1:n.-62C>G
NR_144351.1:n.819C>G
NM_001065.4:c.516C>G MANE Select	NP_001056.1:p.Phe172Leu
NM_001346091.2:c.192C>G	NP_001333020.1:p.Phe64Leu
NM_001346092.2:c.-62C>G	NP_001333021.1:n.-62C>G
NR_144351.2:n.778C>G