Canonical Allele Identifier: CA6405454
Gene: TNFRSF1A HGNC NCBI

Linked Data

dbSNP Id: rs780064698
gnomAD v2: 12-6440011-C-G
gnomAD v3: 12-6330845-C-G
gnomAD v4: 12-6330845-C-G

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.6330845C>G , CM000674.2:g.6330845C>G GRCh38
NC_000012.11:g.6440011C>G , CM000674.1:g.6440011C>G GRCh37
NC_000012.10:g.6310272C>G NCBI36
NG_007506.1:g.16251G>C , LRG_193:g.16251G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000366159.9:n.1726+8G>C
ENST00000437813.8:c.*86+8G>C ENSP00000513672.1:n.*86+8G>C
ENST00000440083.7:c.844+8G>C ENSP00000413224.3:n.844+8G>C
ENST00000535038.2:n.807+8G>C
ENST00000535958.2:c.*452+8G>C ENSP00000513673.1:n.*452+8G>C
ENST00000698337.1:n.482G>C
ENST00000698338.1:n.906G>C
ENST00000698339.1:c.*120+8G>C ENSP00000513670.1:n.*120+8G>C
ENST00000698340.1:c.552-134G>C ENSP00000513671.1:n.552-134G>C
ENST00000162749.7:c.625+8G>C MANE Select ENSP00000162749.2:n.625+8G>C
ENST00000162749.6:c.625+8G>C ENSP00000162749.2:n.625+8G>C
ENST00000534885.5:c.*102+8G>C ENSP00000441803.1:n.*102+8G>C
ENST00000535038.1:n.303G>C
ENST00000536717.5:n.529+8G>C
ENST00000537842.5:n.229+8G>C
ENST00000539372.5:c.625+8G>C ENSP00000442059.1:n.625+8G>C
ENST00000540022.5:c.496+8G>C ENSP00000438343.1:n.496+8G>C
ENST00000543359.5:n.38-134G>C
ENST00000543995.5:c.*212+8G>C ENSP00000442405.1:n.*212+8G>C
NM_001065.3:c.625+8G>C , LRG_193t1:c.625+8G>C NP_001056.1:n.625+8G>C
NM_001346091.1:c.301+8G>C NP_001333020.1:n.301+8G>C
NM_001346092.1:c.166+8G>C NP_001333021.1:n.166+8G>C
NR_144351.1:n.855-134G>C
NM_001065.4:c.625+8G>C MANE Select NP_001056.1:n.625+8G>C
NM_001346091.2:c.301+8G>C NP_001333020.1:n.301+8G>C
NM_001346092.2:c.166+8G>C NP_001333021.1:n.166+8G>C
NR_144351.2:n.814-134G>C