Canonical Allele Identifier: CA603483405
Gene: TNFRSF1A HGNC NCBI

Linked Data

dbSNP Id: rs1321781590
gnomAD v2: 12-6438878-G-C
gnomAD v3: 12-6329712-G-C
gnomAD v4: 12-6329712-G-C

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.6329712G>C , CM000674.2:g.6329712G>C GRCh38
NC_000012.11:g.6438878G>C , CM000674.1:g.6438878G>C GRCh37
NC_000012.10:g.6309139G>C NCBI36
NG_007506.1:g.17384C>G , LRG_193:g.17384C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000366159.9:n.2158+66C>G
ENST00000437813.8:c.*518+66C>G ENSP00000513672.1:n.*518+66C>G
ENST00000440083.7:c.1276+66C>G ENSP00000413224.3:n.1276+66C>G
ENST00000535958.2:c.*884+66C>G ENSP00000513673.1:n.*884+66C>G
ENST00000698337.1:n.1018+66C>G
ENST00000698338.1:n.1671+66C>G
ENST00000698339.1:c.*552+66C>G ENSP00000513670.1:n.*552+66C>G
ENST00000698340.1:c.*296+66C>G ENSP00000513671.1:n.*296+66C>G
ENST00000162749.7:c.1057+66C>G MANE Select ENSP00000162749.2:n.1057+66C>G
ENST00000162749.6:c.1057+66C>G ENSP00000162749.2:n.1057+66C>G
ENST00000534885.5:c.*534+66C>G ENSP00000441803.1:n.*534+66C>G
ENST00000536717.5:n.961+66C>G
ENST00000540022.5:c.928+66C>G ENSP00000438343.1:n.928+66C>G
ENST00000543359.5:n.469+66C>G
ENST00000543995.5:c.*644+66C>G ENSP00000442405.1:n.*644+66C>G
NM_001065.3:c.1057+66C>G , LRG_193t1:c.1057+66C>G NP_001056.1:n.1057+66C>G
NM_001346091.1:c.733+66C>G NP_001333020.1:n.733+66C>G
NM_001346092.1:c.598+66C>G NP_001333021.1:n.598+66C>G
NR_144351.1:n.1286+66C>G
NM_001065.4:c.1057+66C>G MANE Select NP_001056.1:n.1057+66C>G
NM_001346091.2:c.733+66C>G NP_001333020.1:n.733+66C>G
NM_001346092.2:c.598+66C>G NP_001333021.1:n.598+66C>G
NR_144351.2:n.1245+66C>G