Canonical Allele Identifier: CA280827

Gene: TNFRSF1A

Linked Data

• ClinVar Variation Id: 97690
• ClinVar RCV Id: RCV000083943
• dbSNP Id: rs104895249
• MyVariant Identifiers: chr12:g.6442919G>C (hg19) ; chr12:g.6333753G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.6333753G>C , CM000674.2:g.6333753G>C	GRCh38
NC_000012.11:g.6442919G>C , CM000674.1:g.6442919G>C	GRCh37
NC_000012.10:g.6313180G>C	NCBI36
NG_007506.1:g.13343C>G , LRG_193:g.13343C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000366159.9:n.340C>G
ENST00000437813.8:c.306C>G	ENSP00000513672.1:p.Cys102Trp
ENST00000440083.7:c.306C>G	ENSP00000413224.3:p.Cys102Trp
ENST00000535958.2:c.*133C>G	ENSP00000513673.1:n.*133C>G
ENST00000698339.1:c.306C>G	ENSP00000513670.1:p.Cys102Trp
ENST00000698340.1:c.306C>G	ENSP00000513671.1:p.Cys102Trp
ENST00000162749.7:c.306C>G MANE Select	ENSP00000162749.2:p.Cys102Trp
ENST00000162749.6:c.306C>G	ENSP00000162749.2:p.Cys102Trp
ENST00000366159.8:c.306C>G	ENSP00000380389.3:p.Cys102Trp
ENST00000437813.7:n.267C>G
ENST00000440083.6:c.306C>G	ENSP00000413224.2:p.Cys102Trp
ENST00000534885.5:c.152C>G	ENSP00000441803.1:p.Ala51Gly
ENST00000535958.1:n.552C>G
ENST00000536194.1:c.279C>G	ENSP00000442919.1:p.Cys93Trp
ENST00000539372.5:c.306C>G	ENSP00000442059.1:p.Cys102Trp
ENST00000540022.5:c.194-237C>G	ENSP00000438343.1:n.194-237C>G
ENST00000543048.5:c.214+92C>G	ENSP00000439981.1:n.214+92C>G
ENST00000543995.5:c.194-302C>G	ENSP00000442405.1:n.194-302C>G
NM_001065.3:c.306C>G , LRG_193t1:c.306C>G	NP_001056.1:p.Cys102Trp
NM_001346091.1:c.-19C>G	NP_001333020.1:n.-19C>G
NM_001346092.1:c.-272C>G	NP_001333021.1:n.-272C>G
NR_144351.1:n.609C>G
NM_001065.4:c.306C>G MANE Select	NP_001056.1:p.Cys102Trp
NM_001346091.2:c.-19C>G	NP_001333020.1:n.-19C>G
NM_001346092.2:c.-272C>G	NP_001333021.1:n.-272C>G
NR_144351.2:n.568C>G