Canonical Allele Identifier: CA478504768

Gene: TNFRSF1A

Linked Data

• dbSNP Id: rs1305780455
• gnomAD v3: 12-6329821-A-G
• gnomAD v4: 12-6329821-A-G
• MyVariant Identifiers: chr12:g.6438987A>G (hg19) ; chr12:g.6329821A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.6329821A>G , CM000674.2:g.6329821A>G	GRCh38
NC_000012.11:g.6438987A>G , CM000674.1:g.6438987A>G	GRCh37
NC_000012.10:g.6309248A>G	NCBI36
NG_007506.1:g.17275T>C , LRG_193:g.17275T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000366159.9:n.2115T>C
ENST00000437813.8:c.*475T>C	ENSP00000513672.1:n.*475T>C
ENST00000440083.7:c.1233T>C	ENSP00000413224.3:p.Leu411=
ENST00000535958.2:c.*841T>C	ENSP00000513673.1:n.*841T>C
ENST00000698337.1:n.975T>C
ENST00000698338.1:n.1628T>C
ENST00000698339.1:c.*509T>C	ENSP00000513670.1:n.*509T>C
ENST00000698340.1:c.*253T>C	ENSP00000513671.1:n.*253T>C
ENST00000162749.7:c.1014T>C MANE Select	ENSP00000162749.2:p.Leu338=
ENST00000162749.6:c.1014T>C	ENSP00000162749.2:p.Leu338=
ENST00000534885.5:c.*491T>C	ENSP00000441803.1:n.*491T>C
ENST00000536717.5:n.918T>C
ENST00000540022.5:c.885T>C	ENSP00000438343.1:p.Leu295=
ENST00000543359.5:n.426T>C
ENST00000543995.5:c.*601T>C	ENSP00000442405.1:n.*601T>C
NM_001065.3:c.1014T>C , LRG_193t1:c.1014T>C	NP_001056.1:p.Leu338=
NM_001346091.1:c.690T>C	NP_001333020.1:p.Leu230=
NM_001346092.1:c.555T>C	NP_001333021.1:p.Leu185=
NR_144351.1:n.1243T>C
NM_001065.4:c.1014T>C MANE Select	NP_001056.1:p.Leu338=
NM_001346091.2:c.690T>C	NP_001333020.1:p.Leu230=
NM_001346092.2:c.555T>C	NP_001333021.1:p.Leu185=
NR_144351.2:n.1202T>C