Canonical Allele Identifier: CA383545635

Gene: TNFRSF1A

Linked Data

• dbSNP Id: rs1257797804
• gnomAD v2: 12-6438975-C-A
• gnomAD v4: 12-6329809-C-A
• COSMIC: COSM1229877
• MyVariant Identifiers: chr12:g.6438975C>A (hg19) ; chr12:g.6329809C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.6329809C>A , CM000674.2:g.6329809C>A	GRCh38
NC_000012.11:g.6438975C>A , CM000674.1:g.6438975C>A	GRCh37
NC_000012.10:g.6309236C>A	NCBI36
NG_007506.1:g.17287G>T , LRG_193:g.17287G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000366159.9:n.2127G>T
ENST00000437813.8:c.*487G>T	ENSP00000513672.1:n.*487G>T
ENST00000440083.7:c.1245G>T	ENSP00000413224.3:p.Glu415Asp
ENST00000535958.2:c.*853G>T	ENSP00000513673.1:n.*853G>T
ENST00000698337.1:n.987G>T
ENST00000698338.1:n.1640G>T
ENST00000698339.1:c.*521G>T	ENSP00000513670.1:n.*521G>T
ENST00000698340.1:c.*265G>T	ENSP00000513671.1:n.*265G>T
ENST00000162749.7:c.1026G>T MANE Select	ENSP00000162749.2:p.Glu342Asp
ENST00000162749.6:c.1026G>T	ENSP00000162749.2:p.Glu342Asp
ENST00000534885.5:c.*503G>T	ENSP00000441803.1:n.*503G>T
ENST00000536717.5:n.930G>T
ENST00000540022.5:c.897G>T	ENSP00000438343.1:p.Glu299Asp
ENST00000543359.5:n.438G>T
ENST00000543995.5:c.*613G>T	ENSP00000442405.1:n.*613G>T
NM_001065.3:c.1026G>T , LRG_193t1:c.1026G>T	NP_001056.1:p.Glu342Asp
NM_001346091.1:c.702G>T	NP_001333020.1:p.Glu234Asp
NM_001346092.1:c.567G>T	NP_001333021.1:p.Glu189Asp
NR_144351.1:n.1255G>T
NM_001065.4:c.1026G>T MANE Select	NP_001056.1:p.Glu342Asp
NM_001346091.2:c.702G>T	NP_001333020.1:p.Glu234Asp
NM_001346092.2:c.567G>T	NP_001333021.1:p.Glu189Asp
NR_144351.2:n.1214G>T