Canonical Allele Identifier: CA478504753

Gene: TNFRSF1A

Linked Data

• dbSNP Id: rs1348685091
• gnomAD v3: 12-6329806-G-A
• gnomAD v4: 12-6329806-G-A
• MyVariant Identifiers: chr12:g.6438972G>A (hg19) ; chr12:g.6329806G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.6329806G>A , CM000674.2:g.6329806G>A	GRCh38
NC_000012.11:g.6438972G>A , CM000674.1:g.6438972G>A	GRCh37
NC_000012.10:g.6309233G>A	NCBI36
NG_007506.1:g.17290C>T , LRG_193:g.17290C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000366159.9:n.2130C>T
ENST00000437813.8:c.*490C>T	ENSP00000513672.1:n.*490C>T
ENST00000440083.7:c.1248C>T	ENSP00000413224.3:p.Asp416=
ENST00000535958.2:c.*856C>T	ENSP00000513673.1:n.*856C>T
ENST00000698337.1:n.990C>T
ENST00000698338.1:n.1643C>T
ENST00000698339.1:c.*524C>T	ENSP00000513670.1:n.*524C>T
ENST00000698340.1:c.*268C>T	ENSP00000513671.1:n.*268C>T
ENST00000162749.7:c.1029C>T MANE Select	ENSP00000162749.2:p.Asp343=
ENST00000162749.6:c.1029C>T	ENSP00000162749.2:p.Asp343=
ENST00000534885.5:c.*506C>T	ENSP00000441803.1:n.*506C>T
ENST00000536717.5:n.933C>T
ENST00000540022.5:c.900C>T	ENSP00000438343.1:p.Asp300=
ENST00000543359.5:n.441C>T
ENST00000543995.5:c.*616C>T	ENSP00000442405.1:n.*616C>T
NM_001065.3:c.1029C>T , LRG_193t1:c.1029C>T	NP_001056.1:p.Asp343=
NM_001346091.1:c.705C>T	NP_001333020.1:p.Asp235=
NM_001346092.1:c.570C>T	NP_001333021.1:p.Asp190=
NR_144351.1:n.1258C>T
NM_001065.4:c.1029C>T MANE Select	NP_001056.1:p.Asp343=
NM_001346091.2:c.705C>T	NP_001333020.1:p.Asp235=
NM_001346092.2:c.570C>T	NP_001333021.1:p.Asp190=
NR_144351.2:n.1217C>T