Canonical Allele Identifier: CA280695
Gene: TNFRSF1A HGNC NCBI

Linked Data

ClinVar Variation Id: 97643
dbSNP Id: rs104895271
gnomAD v2: 12-6443327-A-C
gnomAD v3: 12-6334161-A-C
gnomAD v4: 12-6334161-A-C

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.6334161A>C , CM000674.2:g.6334161A>C GRCh38
NC_000012.11:g.6443327A>C , CM000674.1:g.6443327A>C GRCh37
NC_000012.10:g.6313588A>C NCBI36
NG_007506.1:g.12935T>G , LRG_193:g.12935T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000366159.9:n.157T>G
ENST00000437813.8:c.123T>G ENSP00000513672.1:p.Asp41Glu
ENST00000440083.7:c.123T>G ENSP00000413224.3:p.Asp41Glu
ENST00000535958.2:c.123T>G ENSP00000513673.1:p.Asp41Glu
ENST00000698339.1:c.123T>G ENSP00000513670.1:p.Asp41Glu
ENST00000698340.1:c.123T>G ENSP00000513671.1:p.Asp41Glu
ENST00000162749.7:c.123T>G MANE Select ENSP00000162749.2:p.Asp41Glu
ENST00000162749.6:c.123T>G ENSP00000162749.2:p.Asp41Glu
ENST00000366159.8:c.123T>G ENSP00000380389.3:p.Asp41Glu
ENST00000437813.7:n.84T>G
ENST00000440083.6:c.123T>G ENSP00000413224.2:p.Asp41Glu
ENST00000534885.5:c.40-296T>G ENSP00000441803.1:n.40-296T>G
ENST00000535958.1:n.344T>G
ENST00000536194.1:c.123T>G ENSP00000442919.1:p.Asp41Glu
ENST00000538363.1:n.313T>G
ENST00000539372.5:c.123T>G ENSP00000442059.1:p.Asp41Glu
ENST00000540022.5:c.123T>G ENSP00000438343.1:p.Asp41Glu
ENST00000543048.5:c.123T>G ENSP00000439981.1:p.Asp41Glu
ENST00000543995.5:c.123T>G ENSP00000442405.1:p.Asp41Glu
NM_001065.3:c.123T>G , LRG_193t1:c.123T>G NP_001056.1:p.Asp41Glu
NM_001346091.1:c.-131-296T>G NP_001333020.1:n.-131-296T>G
NM_001346092.1:c.-455T>G NP_001333021.1:n.-455T>G
NR_144351.1:n.426T>G
NM_001065.4:c.123T>G MANE Select NP_001056.1:p.Asp41Glu
NM_001346091.2:c.-131-296T>G NP_001333020.1:n.-131-296T>G
NM_001346092.2:c.-455T>G NP_001333021.1:n.-455T>G
NR_144351.2:n.385T>G