Canonical Allele Identifier: CA690830340
Gene: TNFRSF1A HGNC NCBI

Linked Data

dbSNP Id: rs1319663079
gnomAD v3: 12-6333670-C-G
gnomAD v4: 12-6333670-C-G

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.6333670C>G , CM000674.2:g.6333670C>G GRCh38
NC_000012.11:g.6442836C>G , CM000674.1:g.6442836C>G GRCh37
NC_000012.10:g.6313097C>G NCBI36
NG_007506.1:g.13426G>C , LRG_193:g.13426G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000366159.9:n.356+67G>C
ENST00000437813.8:c.322+67G>C ENSP00000513672.1:n.322+67G>C
ENST00000440083.7:c.322+67G>C ENSP00000413224.3:n.322+67G>C
ENST00000535958.2:c.*149+67G>C ENSP00000513673.1:n.*149+67G>C
ENST00000698339.1:c.322+67G>C ENSP00000513670.1:n.322+67G>C
ENST00000698340.1:c.322+67G>C ENSP00000513671.1:n.322+67G>C
ENST00000162749.7:c.322+67G>C MANE Select ENSP00000162749.2:n.322+67G>C
ENST00000162749.6:c.322+67G>C ENSP00000162749.2:n.322+67G>C
ENST00000366159.8:c.322+67G>C ENSP00000380389.3:n.322+67G>C
ENST00000437813.7:n.283+67G>C
ENST00000440083.6:c.322+67G>C ENSP00000413224.2:n.322+67G>C
ENST00000534885.5:c.168+67G>C ENSP00000441803.1:n.168+67G>C
ENST00000536194.1:c.295+67G>C ENSP00000442919.1:n.295+67G>C
ENST00000539372.5:c.322+67G>C ENSP00000442059.1:n.322+67G>C
ENST00000540022.5:c.194-154G>C ENSP00000438343.1:n.194-154G>C
ENST00000543048.5:c.214+175G>C ENSP00000439981.1:n.214+175G>C
ENST00000543995.5:c.194-219G>C ENSP00000442405.1:n.194-219G>C
NM_001065.3:c.322+67G>C , LRG_193t1:c.322+67G>C NP_001056.1:n.322+67G>C
NM_001346091.1:c.-3+67G>C NP_001333020.1:n.-3+67G>C
NM_001346092.1:c.-256+67G>C NP_001333021.1:n.-256+67G>C
NR_144351.1:n.625+67G>C
NM_001065.4:c.322+67G>C MANE Select NP_001056.1:n.322+67G>C
NM_001346091.2:c.-3+67G>C NP_001333020.1:n.-3+67G>C
NM_001346092.2:c.-256+67G>C NP_001333021.1:n.-256+67G>C
NR_144351.2:n.584+67G>C