Canonical Allele Identifier: CA603483406
Gene: TNFRSF1A HGNC NCBI

Linked Data

dbSNP Id: rs1271865913
gnomAD v2: 12-6438886-C-T
gnomAD v3: 12-6329720-C-T
gnomAD v4: 12-6329720-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.6329720C>T , CM000674.2:g.6329720C>T GRCh38
NC_000012.11:g.6438886C>T , CM000674.1:g.6438886C>T GRCh37
NC_000012.10:g.6309147C>T NCBI36
NG_007506.1:g.17376G>A , LRG_193:g.17376G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000366159.9:n.2158+58G>A
ENST00000437813.8:c.*518+58G>A ENSP00000513672.1:n.*518+58G>A
ENST00000440083.7:c.1276+58G>A ENSP00000413224.3:n.1276+58G>A
ENST00000535958.2:c.*884+58G>A ENSP00000513673.1:n.*884+58G>A
ENST00000698337.1:n.1018+58G>A
ENST00000698338.1:n.1671+58G>A
ENST00000698339.1:c.*552+58G>A ENSP00000513670.1:n.*552+58G>A
ENST00000698340.1:c.*296+58G>A ENSP00000513671.1:n.*296+58G>A
ENST00000162749.7:c.1057+58G>A MANE Select ENSP00000162749.2:n.1057+58G>A
ENST00000162749.6:c.1057+58G>A ENSP00000162749.2:n.1057+58G>A
ENST00000534885.5:c.*534+58G>A ENSP00000441803.1:n.*534+58G>A
ENST00000536717.5:n.961+58G>A
ENST00000540022.5:c.928+58G>A ENSP00000438343.1:n.928+58G>A
ENST00000543359.5:n.469+58G>A
ENST00000543995.5:c.*644+58G>A ENSP00000442405.1:n.*644+58G>A
NM_001065.3:c.1057+58G>A , LRG_193t1:c.1057+58G>A NP_001056.1:n.1057+58G>A
NM_001346091.1:c.733+58G>A NP_001333020.1:n.733+58G>A
NM_001346092.1:c.598+58G>A NP_001333021.1:n.598+58G>A
NR_144351.1:n.1286+58G>A
NM_001065.4:c.1057+58G>A MANE Select NP_001056.1:n.1057+58G>A
NM_001346091.2:c.733+58G>A NP_001333020.1:n.733+58G>A
NM_001346092.2:c.598+58G>A NP_001333021.1:n.598+58G>A
NR_144351.2:n.1245+58G>A