Canonical Allele Identifier: CA6405327
Gene: TNFRSF1A HGNC NCBI

Linked Data

dbSNP Id: rs374434564
gnomAD v2: 12-6439090-C-G
gnomAD v4: 12-6329924-C-G

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.6329924C>G , CM000674.2:g.6329924C>G GRCh38
NC_000012.11:g.6439090C>G , CM000674.1:g.6439090C>G GRCh37
NC_000012.10:g.6309351C>G NCBI36
NG_007506.1:g.17172G>C , LRG_193:g.17172G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000366159.9:n.2012G>C
ENST00000437813.8:c.*372G>C ENSP00000513672.1:n.*372G>C
ENST00000440083.7:c.1130G>C ENSP00000413224.3:p.Cys377Ser
ENST00000535958.2:c.*738G>C ENSP00000513673.1:n.*738G>C
ENST00000698337.1:n.872G>C
ENST00000698338.1:n.1525G>C
ENST00000698339.1:c.*406G>C ENSP00000513670.1:n.*406G>C
ENST00000698340.1:c.*150G>C ENSP00000513671.1:n.*150G>C
ENST00000162749.7:c.911G>C MANE Select ENSP00000162749.2:p.Cys304Ser
ENST00000162749.6:c.911G>C ENSP00000162749.2:p.Cys304Ser
ENST00000534885.5:c.*388G>C ENSP00000441803.1:n.*388G>C
ENST00000536717.5:n.815G>C
ENST00000537842.5:n.373-25G>C
ENST00000540022.5:c.782G>C ENSP00000438343.1:p.Cys261Ser
ENST00000543359.5:n.323G>C
ENST00000543995.5:c.*498G>C ENSP00000442405.1:n.*498G>C
NM_001065.3:c.911G>C , LRG_193t1:c.911G>C NP_001056.1:p.Cys304Ser
NM_001346091.1:c.587G>C NP_001333020.1:p.Cys196Ser
NM_001346092.1:c.452G>C NP_001333021.1:p.Cys151Ser
NR_144351.1:n.1140G>C
NM_001065.4:c.911G>C MANE Select NP_001056.1:p.Cys304Ser
NM_001346091.2:c.587G>C NP_001333020.1:p.Cys196Ser
NM_001346092.2:c.452G>C NP_001333021.1:p.Cys151Ser
NR_144351.2:n.1099G>C