Canonical Allele Identifier: CA6405610

Gene: TNFRSF1A

Linked Data

• ClinVar Variation Id: 440346
• ClinVar RCV Id: RCV000506549 ; RCV001857279
• dbSNP Id: rs763940329
• ExAC: 12:6443358 A / C
• gnomAD v2: 12-6443358-A-C
• gnomAD v4: 12-6334192-A-C
• MyVariant Identifiers: chr12:g.6443358A>C (hg19) ; chr12:g.6334192A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.6334192A>C , CM000674.2:g.6334192A>C	GRCh38
NC_000012.11:g.6443358A>C , CM000674.1:g.6443358A>C	GRCh37
NC_000012.10:g.6313619A>C	NCBI36
NG_007506.1:g.12904T>G , LRG_193:g.12904T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000366159.9:n.126T>G
ENST00000437813.8:c.92T>G	ENSP00000513672.1:p.Val31Gly
ENST00000440083.7:c.92T>G	ENSP00000413224.3:p.Val31Gly
ENST00000535958.2:c.92T>G	ENSP00000513673.1:p.Val31Gly
ENST00000698339.1:c.92T>G	ENSP00000513670.1:p.Val31Gly
ENST00000698340.1:c.92T>G	ENSP00000513671.1:p.Val31Gly
ENST00000162749.7:c.92T>G MANE Select	ENSP00000162749.2:p.Val31Gly
ENST00000162749.6:c.92T>G	ENSP00000162749.2:p.Val31Gly
ENST00000366159.8:c.92T>G	ENSP00000380389.3:p.Val31Gly
ENST00000437813.7:n.53T>G
ENST00000440083.6:c.92T>G	ENSP00000413224.2:p.Val31Gly
ENST00000534885.5:c.40-327T>G	ENSP00000441803.1:n.40-327T>G
ENST00000535958.1:n.313T>G
ENST00000536194.1:c.92T>G	ENSP00000442919.1:p.Val31Gly
ENST00000538363.1:n.282T>G
ENST00000539372.5:c.92T>G	ENSP00000442059.1:p.Val31Gly
ENST00000540022.5:c.92T>G	ENSP00000438343.1:p.Val31Gly
ENST00000543048.5:c.92T>G	ENSP00000439981.1:p.Val31Gly
ENST00000543995.5:c.92T>G	ENSP00000442405.1:p.Val31Gly
NM_001065.3:c.92T>G , LRG_193t1:c.92T>G	NP_001056.1:p.Val31Gly
NM_001346091.1:c.-131-327T>G	NP_001333020.1:n.-131-327T>G
NM_001346092.1:c.-486T>G	NP_001333021.1:n.-486T>G
NR_144351.1:n.395T>G
NM_001065.4:c.92T>G MANE Select	NP_001056.1:p.Val31Gly
NM_001346091.2:c.-131-327T>G	NP_001333020.1:n.-131-327T>G
NM_001346092.2:c.-486T>G	NP_001333021.1:n.-486T>G
NR_144351.2:n.354T>G