Canonical Allele Identifier: CA13612642
Gene: TNFRSF1A HGNC NCBI

Linked Data

ClinVar Variation Id: 677250
ClinVar RCV Id: RCV000836793
dbSNP Id: rs4149639
gnomAD v2: 12-6442001-T-C
gnomAD v3: 12-6332835-T-C
gnomAD v4: 12-6332835-T-C

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.6332835T>C , CM000674.2:g.6332835T>C GRCh38
NC_000012.11:g.6442001T>C , CM000674.1:g.6442001T>C GRCh37
NC_000012.10:g.6312262T>C NCBI36
NG_007506.1:g.14261A>G , LRG_193:g.14261A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000366159.9:n.585+234A>G
ENST00000437813.8:c.551+234A>G ENSP00000513672.1:n.551+234A>G
ENST00000440083.7:c.770+234A>G ENSP00000413224.3:n.770+234A>G
ENST00000535958.2:c.*378+234A>G ENSP00000513673.1:n.*378+234A>G
ENST00000698339.1:c.551+234A>G ENSP00000513670.1:n.551+234A>G
ENST00000698340.1:c.551+234A>G ENSP00000513671.1:n.551+234A>G
ENST00000162749.7:c.551+234A>G MANE Select ENSP00000162749.2:n.551+234A>G
ENST00000162749.6:c.551+234A>G ENSP00000162749.2:n.551+234A>G
ENST00000366159.8:c.551+234A>G ENSP00000380389.3:n.551+234A>G
ENST00000437813.7:n.512+234A>G
ENST00000534885.5:c.*28+234A>G ENSP00000441803.1:n.*28+234A>G
ENST00000537842.5:n.155+234A>G
ENST00000539372.5:c.551+234A>G ENSP00000442059.1:n.551+234A>G
ENST00000540022.5:c.422+234A>G ENSP00000438343.1:n.422+234A>G
ENST00000543359.5:n.37+234A>G
ENST00000543995.5:c.*138+234A>G ENSP00000442405.1:n.*138+234A>G
NM_001065.3:c.551+234A>G , LRG_193t1:c.551+234A>G NP_001056.1:n.551+234A>G
NM_001346091.1:c.227+234A>G NP_001333020.1:n.227+234A>G
NM_001346092.1:c.-27+234A>G NP_001333021.1:n.-27+234A>G
NR_144351.1:n.854+234A>G
NM_001065.4:c.551+234A>G MANE Select NP_001056.1:n.551+234A>G
NM_001346091.2:c.227+234A>G NP_001333020.1:n.227+234A>G
NM_001346092.2:c.-27+234A>G NP_001333021.1:n.-27+234A>G
NR_144351.2:n.813+234A>G