Canonical Allele Identifier: CA603483404
Gene: TNFRSF1A HGNC NCBI

Linked Data

dbSNP Id: rs1311657467
gnomAD v2: 12-6438872-C-T
gnomAD v3: 12-6329706-C-T
gnomAD v4: 12-6329706-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.6329706C>T , CM000674.2:g.6329706C>T GRCh38
NC_000012.11:g.6438872C>T , CM000674.1:g.6438872C>T GRCh37
NC_000012.10:g.6309133C>T NCBI36
NG_007506.1:g.17390G>A , LRG_193:g.17390G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000366159.9:n.2158+72G>A
ENST00000437813.8:c.*518+72G>A ENSP00000513672.1:n.*518+72G>A
ENST00000440083.7:c.1276+72G>A ENSP00000413224.3:n.1276+72G>A
ENST00000535958.2:c.*884+72G>A ENSP00000513673.1:n.*884+72G>A
ENST00000698337.1:n.1018+72G>A
ENST00000698338.1:n.1671+72G>A
ENST00000698339.1:c.*552+72G>A ENSP00000513670.1:n.*552+72G>A
ENST00000698340.1:c.*296+72G>A ENSP00000513671.1:n.*296+72G>A
ENST00000162749.7:c.1057+72G>A MANE Select ENSP00000162749.2:n.1057+72G>A
ENST00000162749.6:c.1057+72G>A ENSP00000162749.2:n.1057+72G>A
ENST00000534885.5:c.*534+72G>A ENSP00000441803.1:n.*534+72G>A
ENST00000536717.5:n.961+72G>A
ENST00000540022.5:c.928+72G>A ENSP00000438343.1:n.928+72G>A
ENST00000543359.5:n.469+72G>A
ENST00000543995.5:c.*644+72G>A ENSP00000442405.1:n.*644+72G>A
NM_001065.3:c.1057+72G>A , LRG_193t1:c.1057+72G>A NP_001056.1:n.1057+72G>A
NM_001346091.1:c.733+72G>A NP_001333020.1:n.733+72G>A
NM_001346092.1:c.598+72G>A NP_001333021.1:n.598+72G>A
NR_144351.1:n.1286+72G>A
NM_001065.4:c.1057+72G>A MANE Select NP_001056.1:n.1057+72G>A
NM_001346091.2:c.733+72G>A NP_001333020.1:n.733+72G>A
NM_001346092.2:c.598+72G>A NP_001333021.1:n.598+72G>A
NR_144351.2:n.1245+72G>A