Canonical Allele Identifier: CA6405607

Gene: TNFRSF1A

Linked Data

• ClinVar Variation Id: 546694
• ClinVar RCV Id: RCV000658632 ; RCV001376777
• dbSNP Id: rs199882512
• ExAC: 12:6443329 C / G
• gnomAD v2: 12-6443329-C-G
• gnomAD v3: 12-6334163-C-G
• gnomAD v4: 12-6334163-C-G
• MyVariant Identifiers: chr12:g.6443329C>G (hg19) ; chr12:g.6334163C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.6334163C>G , CM000674.2:g.6334163C>G	GRCh38
NC_000012.11:g.6443329C>G , CM000674.1:g.6443329C>G	GRCh37
NC_000012.10:g.6313590C>G	NCBI36
NG_007506.1:g.12933G>C , LRG_193:g.12933G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000366159.9:n.155G>C
ENST00000437813.8:c.121G>C	ENSP00000513672.1:p.Asp41His
ENST00000440083.7:c.121G>C	ENSP00000413224.3:p.Asp41His
ENST00000535958.2:c.121G>C	ENSP00000513673.1:p.Asp41His
ENST00000698339.1:c.121G>C	ENSP00000513670.1:p.Asp41His
ENST00000698340.1:c.121G>C	ENSP00000513671.1:p.Asp41His
ENST00000162749.7:c.121G>C MANE Select	ENSP00000162749.2:p.Asp41His
ENST00000162749.6:c.121G>C	ENSP00000162749.2:p.Asp41His
ENST00000366159.8:c.121G>C	ENSP00000380389.3:p.Asp41His
ENST00000437813.7:n.82G>C
ENST00000440083.6:c.121G>C	ENSP00000413224.2:p.Asp41His
ENST00000534885.5:c.40-298G>C	ENSP00000441803.1:n.40-298G>C
ENST00000535958.1:n.342G>C
ENST00000536194.1:c.121G>C	ENSP00000442919.1:p.Asp41His
ENST00000538363.1:n.311G>C
ENST00000539372.5:c.121G>C	ENSP00000442059.1:p.Asp41His
ENST00000540022.5:c.121G>C	ENSP00000438343.1:p.Asp41His
ENST00000543048.5:c.121G>C	ENSP00000439981.1:p.Asp41His
ENST00000543995.5:c.121G>C	ENSP00000442405.1:p.Asp41His
NM_001065.3:c.121G>C , LRG_193t1:c.121G>C	NP_001056.1:p.Asp41His
NM_001346091.1:c.-131-298G>C	NP_001333020.1:n.-131-298G>C
NM_001346092.1:c.-457G>C	NP_001333021.1:n.-457G>C
NR_144351.1:n.424G>C
NM_001065.4:c.121G>C MANE Select	NP_001056.1:p.Asp41His
NM_001346091.2:c.-131-298G>C	NP_001333020.1:n.-131-298G>C
NM_001346092.2:c.-457G>C	NP_001333021.1:n.-457G>C
NR_144351.2:n.383G>C