Canonical Allele Identifier: CA280843

Gene: TNFRSF1A

Linked Data

• ClinVar Variation Id: 97696
• ClinVar RCV Id: RCV000083949 ; RCV000215355 ; RCV002262671
• dbSNP Id: rs104895278
• ExAC: 12:6442635 C / T
• gnomAD v2: 12-6442635-C-T
• gnomAD v3: 12-6333469-C-T
• gnomAD v4: 12-6333469-C-T
• MyVariant Identifiers: chr12:g.6442635C>T (hg19) ; chr12:g.6333469C>T (hg38)
• PubMed: PMID:28135719

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.6333469C>T , CM000674.2:g.6333469C>T	GRCh38
NC_000012.11:g.6442635C>T , CM000674.1:g.6442635C>T	GRCh37
NC_000012.10:g.6312896C>T	NCBI36
NG_007506.1:g.13627G>A , LRG_193:g.13627G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000366159.9:n.404G>A
ENST00000437813.8:c.370G>A	ENSP00000513672.1:p.Val124Met
ENST00000440083.7:c.370G>A	ENSP00000413224.3:p.Val124Met
ENST00000535958.2:c.*197G>A	ENSP00000513673.1:n.*197G>A
ENST00000698339.1:c.370G>A	ENSP00000513670.1:p.Val124Met
ENST00000698340.1:c.370G>A	ENSP00000513671.1:p.Val124Met
ENST00000162749.7:c.370G>A MANE Select	ENSP00000162749.2:p.Val124Met
ENST00000162749.6:c.370G>A	ENSP00000162749.2:p.Val124Met
ENST00000366159.8:c.370G>A	ENSP00000380389.3:p.Val124Met
ENST00000437813.7:n.331G>A
ENST00000440083.6:c.370G>A	ENSP00000413224.2:p.Val124Met
ENST00000534885.5:c.216G>A	ENSP00000441803.1:p.Pro72=
ENST00000536194.1:c.343G>A	ENSP00000442919.1:p.Val115Met
ENST00000539372.5:c.370G>A	ENSP00000442059.1:p.Val124Met
ENST00000540022.5:c.241G>A	ENSP00000438343.1:p.Val81Met
ENST00000543048.5:c.215-18G>A	ENSP00000439981.1:n.215-18G>A
ENST00000543995.5:c.194-18G>A	ENSP00000442405.1:n.194-18G>A
NM_001065.3:c.370G>A , LRG_193t1:c.370G>A	NP_001056.1:p.Val124Met
NM_001346091.1:c.46G>A	NP_001333020.1:p.Val16Met
NM_001346092.1:c.-208G>A	NP_001333021.1:n.-208G>A
NR_144351.1:n.673G>A
NM_001065.4:c.370G>A MANE Select	NP_001056.1:p.Val124Met
NM_001346091.2:c.46G>A	NP_001333020.1:p.Val16Met
NM_001346092.2:c.-208G>A	NP_001333021.1:n.-208G>A
NR_144351.2:n.632G>A