Canonical Allele Identifier: CA383548192

Gene: TNFRSF1A

Linked Data

• dbSNP Id: rs1459573920
• gnomAD v2: 12-6440090-C-A
• gnomAD v4: 12-6330924-C-A
• MyVariant Identifiers: chr12:g.6440090C>A (hg19) ; chr12:g.6330924C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.6330924C>A , CM000674.2:g.6330924C>A	GRCh38
NC_000012.11:g.6440090C>A , CM000674.1:g.6440090C>A	GRCh37
NC_000012.10:g.6310351C>A	NCBI36
NG_007506.1:g.16172G>T , LRG_193:g.16172G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000366159.9:n.1655G>T
ENST00000437813.8:c.*15G>T	ENSP00000513672.1:n.*15G>T
ENST00000440083.7:c.773G>T	ENSP00000413224.3:p.Cys258Phe
ENST00000535038.2:n.736G>T
ENST00000535958.2:c.*381G>T	ENSP00000513673.1:n.*381G>T
ENST00000698337.1:n.403G>T
ENST00000698338.1:n.827G>T
ENST00000698339.1:c.*49G>T	ENSP00000513670.1:n.*49G>T
ENST00000698340.1:c.552-213G>T	ENSP00000513671.1:n.552-213G>T
ENST00000162749.7:c.554G>T MANE Select	ENSP00000162749.2:p.Cys185Phe
ENST00000162749.6:c.554G>T	ENSP00000162749.2:p.Cys185Phe
ENST00000534885.5:c.*31G>T	ENSP00000441803.1:n.*31G>T
ENST00000535038.1:n.224G>T
ENST00000536717.5:n.458G>T
ENST00000537842.5:n.158G>T
ENST00000539372.5:c.554G>T	ENSP00000442059.1:p.Cys185Phe
ENST00000540022.5:c.425G>T	ENSP00000438343.1:p.Cys142Phe
ENST00000543359.5:n.38-213G>T
ENST00000543995.5:c.*141G>T	ENSP00000442405.1:n.*141G>T
NM_001065.3:c.554G>T , LRG_193t1:c.554G>T	NP_001056.1:p.Cys185Phe
NM_001346091.1:c.230G>T	NP_001333020.1:p.Cys77Phe
NM_001346092.1:c.95G>T	NP_001333021.1:p.Cys32Phe
NR_144351.1:n.855-213G>T
NM_001065.4:c.554G>T MANE Select	NP_001056.1:p.Cys185Phe
NM_001346091.2:c.230G>T	NP_001333020.1:p.Cys77Phe
NM_001346092.2:c.95G>T	NP_001333021.1:p.Cys32Phe
NR_144351.2:n.814-213G>T