Canonical Allele Identifier: CA6405458

Gene: TNFRSF1A

Linked Data

• ClinVar Variation Id: 234423
• ClinVar RCV Id: RCV000219058 ; RCV000495530 ; RCV001068583
• dbSNP Id: rs104895247
• ExAC: 12:6440048 A / G
• gnomAD v2: 12-6440048-A-G
• gnomAD v3: 12-6330882-A-G
• gnomAD v4: 12-6330882-A-G
• MyVariant Identifiers: chr12:g.6440048A>G (hg19) ; chr12:g.6330882A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.6330882A>G , CM000674.2:g.6330882A>G	GRCh38
NC_000012.11:g.6440048A>G , CM000674.1:g.6440048A>G	GRCh37
NC_000012.10:g.6310309A>G	NCBI36
NG_007506.1:g.16214T>C , LRG_193:g.16214T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000366159.9:n.1697T>C
ENST00000437813.8:c.*57T>C	ENSP00000513672.1:n.*57T>C
ENST00000440083.7:c.815T>C	ENSP00000413224.3:p.Ile272Thr
ENST00000535038.2:n.778T>C
ENST00000535958.2:c.*423T>C	ENSP00000513673.1:n.*423T>C
ENST00000698337.1:n.445T>C
ENST00000698338.1:n.869T>C
ENST00000698339.1:c.*91T>C	ENSP00000513670.1:n.*91T>C
ENST00000698340.1:c.552-171T>C	ENSP00000513671.1:n.552-171T>C
ENST00000162749.7:c.596T>C MANE Select	ENSP00000162749.2:p.Ile199Thr
ENST00000162749.6:c.596T>C	ENSP00000162749.2:p.Ile199Thr
ENST00000534885.5:c.*73T>C	ENSP00000441803.1:n.*73T>C
ENST00000535038.1:n.266T>C
ENST00000536717.5:n.500T>C
ENST00000537842.5:n.200T>C
ENST00000539372.5:c.596T>C	ENSP00000442059.1:p.Ile199Thr
ENST00000540022.5:c.467T>C	ENSP00000438343.1:p.Ile156Thr
ENST00000543359.5:n.38-171T>C
ENST00000543995.5:c.*183T>C	ENSP00000442405.1:n.*183T>C
NM_001065.3:c.596T>C , LRG_193t1:c.596T>C	NP_001056.1:p.Ile199Thr
NM_001346091.1:c.272T>C	NP_001333020.1:p.Ile91Thr
NM_001346092.1:c.137T>C	NP_001333021.1:p.Ile46Thr
NR_144351.1:n.855-171T>C
NM_001065.4:c.596T>C MANE Select	NP_001056.1:p.Ile199Thr
NM_001346091.2:c.272T>C	NP_001333020.1:p.Ile91Thr
NM_001346092.2:c.137T>C	NP_001333021.1:p.Ile46Thr
NR_144351.2:n.814-171T>C