Canonical Allele Identifier: CA944343362

Gene: TNFRSF1A

Linked Data

• ClinVar Variation Id: 1182551
• ClinVar RCV Id: RCV001540204
• dbSNP Id: rs1948086341
• gnomAD v3: 12-6333966-G-A
• gnomAD v4: 12-6333966-G-A

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.6333966G>A , CM000674.2:g.6333966G>A	GRCh38
NC_000012.11:g.6443132G>A , CM000674.1:g.6443132G>A	GRCh37
NC_000012.10:g.6313393G>A	NCBI36
NG_007506.1:g.13130C>T , LRG_193:g.13130C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000366159.9:n.228-101C>T
ENST00000437813.8:c.194-101C>T	ENSP00000513672.1:n.194-101C>T
ENST00000440083.7:c.194-101C>T	ENSP00000413224.3:n.194-101C>T
ENST00000535958.2:c.194-76C>T	ENSP00000513673.1:n.194-76C>T
ENST00000698339.1:c.194-101C>T	ENSP00000513670.1:n.194-101C>T
ENST00000698340.1:c.194-101C>T	ENSP00000513671.1:n.194-101C>T
ENST00000162749.7:c.194-101C>T MANE Select	ENSP00000162749.2:n.194-101C>T
ENST00000162749.6:c.194-101C>T	ENSP00000162749.2:n.194-101C>T
ENST00000366159.8:c.194-101C>T	ENSP00000380389.3:n.194-101C>T
ENST00000437813.7:n.155-101C>T
ENST00000440083.6:c.194-101C>T	ENSP00000413224.2:n.194-101C>T
ENST00000534885.5:c.40-101C>T	ENSP00000441803.1:n.40-101C>T
ENST00000535958.1:n.415-76C>T
ENST00000536194.1:c.193+125C>T	ENSP00000442919.1:n.193+125C>T
ENST00000538363.1:n.508C>T
ENST00000539372.5:c.194-101C>T	ENSP00000442059.1:n.194-101C>T
ENST00000540022.5:c.193+125C>T	ENSP00000438343.1:n.193+125C>T
ENST00000543048.5:c.194-101C>T	ENSP00000439981.1:n.194-101C>T
ENST00000543995.5:c.193+125C>T	ENSP00000442405.1:n.193+125C>T
NM_001065.3:c.194-101C>T , LRG_193t1:c.194-101C>T	NP_001056.1:n.194-101C>T
NM_001346091.1:c.-131-101C>T	NP_001333020.1:n.-131-101C>T
NM_001346092.1:c.-384-101C>T	NP_001333021.1:n.-384-101C>T
NR_144351.1:n.497-101C>T
NM_001065.4:c.194-101C>T MANE Select	NP_001056.1:n.194-101C>T
NM_001346091.2:c.-131-101C>T	NP_001333020.1:n.-131-101C>T
NM_001346092.2:c.-384-101C>T	NP_001333021.1:n.-384-101C>T
NR_144351.2:n.456-101C>T