Canonical Allele Identifier: CA6405307

Gene: TNFRSF1A

Linked Data

• ClinVar Variation Id: 567867
• ClinVar RCV Id: RCV000688062
• dbSNP Id: rs778653907
• ExAC: 12:6438983 T / C
• gnomAD v2: 12-6438983-T-C
• gnomAD v3: 12-6329817-T-C
• gnomAD v4: 12-6329817-T-C
• MyVariant Identifiers: chr12:g.6438983T>C (hg19) ; chr12:g.6329817T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.6329817T>C , CM000674.2:g.6329817T>C	GRCh38
NC_000012.11:g.6438983T>C , CM000674.1:g.6438983T>C	GRCh37
NC_000012.10:g.6309244T>C	NCBI36
NG_007506.1:g.17279A>G , LRG_193:g.17279A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000366159.9:n.2119A>G
ENST00000437813.8:c.*479A>G	ENSP00000513672.1:n.*479A>G
ENST00000440083.7:c.1237A>G	ENSP00000413224.3:p.Lys413Glu
ENST00000535958.2:c.*845A>G	ENSP00000513673.1:n.*845A>G
ENST00000698337.1:n.979A>G
ENST00000698338.1:n.1632A>G
ENST00000698339.1:c.*513A>G	ENSP00000513670.1:n.*513A>G
ENST00000698340.1:c.*257A>G	ENSP00000513671.1:n.*257A>G
ENST00000162749.7:c.1018A>G MANE Select	ENSP00000162749.2:p.Lys340Glu
ENST00000162749.6:c.1018A>G	ENSP00000162749.2:p.Lys340Glu
ENST00000534885.5:c.*495A>G	ENSP00000441803.1:n.*495A>G
ENST00000536717.5:n.922A>G
ENST00000540022.5:c.889A>G	ENSP00000438343.1:p.Lys297Glu
ENST00000543359.5:n.430A>G
ENST00000543995.5:c.*605A>G	ENSP00000442405.1:n.*605A>G
NM_001065.3:c.1018A>G , LRG_193t1:c.1018A>G	NP_001056.1:p.Lys340Glu
NM_001346091.1:c.694A>G	NP_001333020.1:p.Lys232Glu
NM_001346092.1:c.559A>G	NP_001333021.1:p.Lys187Glu
NR_144351.1:n.1247A>G
NM_001065.4:c.1018A>G MANE Select	NP_001056.1:p.Lys340Glu
NM_001346091.2:c.694A>G	NP_001333020.1:p.Lys232Glu
NM_001346092.2:c.559A>G	NP_001333021.1:p.Lys187Glu
NR_144351.2:n.1206A>G