Canonical Allele Identifier: CA478504991

Gene: TNFRSF1A

Linked Data

• dbSNP Id: rs1416440109
• gnomAD v2: 12-6442669-C-T
• gnomAD v4: 12-6333503-C-T
• MyVariant Identifiers: chr12:g.6442669C>T (hg19) ; chr12:g.6333503C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.6333503C>T , CM000674.2:g.6333503C>T	GRCh38
NC_000012.11:g.6442669C>T , CM000674.1:g.6442669C>T	GRCh37
NC_000012.10:g.6312930C>T	NCBI36
NG_007506.1:g.13593G>A , LRG_193:g.13593G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000366159.9:n.370G>A
ENST00000437813.8:c.336G>A	ENSP00000513672.1:p.Val112=
ENST00000440083.7:c.336G>A	ENSP00000413224.3:p.Val112=
ENST00000535958.2:c.*163G>A	ENSP00000513673.1:n.*163G>A
ENST00000698339.1:c.336G>A	ENSP00000513670.1:p.Val112=
ENST00000698340.1:c.336G>A	ENSP00000513671.1:p.Val112=
ENST00000162749.7:c.336G>A MANE Select	ENSP00000162749.2:p.Val112=
ENST00000162749.6:c.336G>A	ENSP00000162749.2:p.Val112=
ENST00000366159.8:c.336G>A	ENSP00000380389.3:p.Val112=
ENST00000437813.7:n.297G>A
ENST00000440083.6:c.336G>A	ENSP00000413224.2:p.Val112=
ENST00000534885.5:c.182G>A	ENSP00000441803.1:p.Trp61Ter
ENST00000536194.1:c.309G>A	ENSP00000442919.1:p.Val103=
ENST00000539372.5:c.336G>A	ENSP00000442059.1:p.Val112=
ENST00000540022.5:c.207G>A	ENSP00000438343.1:p.Val69=
ENST00000543048.5:c.215-52G>A	ENSP00000439981.1:n.215-52G>A
ENST00000543995.5:c.194-52G>A	ENSP00000442405.1:n.194-52G>A
NM_001065.3:c.336G>A , LRG_193t1:c.336G>A	NP_001056.1:p.Val112=
NM_001346091.1:c.12G>A	NP_001333020.1:p.Val4=
NM_001346092.1:c.-242G>A	NP_001333021.1:n.-242G>A
NR_144351.1:n.639G>A
NM_001065.4:c.336G>A MANE Select	NP_001056.1:p.Val112=
NM_001346091.2:c.12G>A	NP_001333020.1:p.Val4=
NM_001346092.2:c.-242G>A	NP_001333021.1:n.-242G>A
NR_144351.2:n.598G>A