Canonical Allele Identifier: CA10577455
Gene: TNFRSF1A HGNC NCBI

Linked Data

ClinVar Variation Id: 234421
ClinVar RCV Id: RCV000218061 RCV000699281
dbSNP Id: rs876661014
MyVariant Identifiers: chr12:g.6442943G>C (hg19) chr12:g.6333777G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.6333777G>C , CM000674.2:g.6333777G>C GRCh38
NC_000012.11:g.6442943G>C , CM000674.1:g.6442943G>C GRCh37
NC_000012.10:g.6313204G>C NCBI36
NG_007506.1:g.13319C>G , LRG_193:g.13319C>G

Transcript Alleles

HGVS Amino-acid change
ENST00000366159.9:n.316C>G
ENST00000437813.8:c.282C>G ENSP00000513672.1:p.Asn94Lys
ENST00000440083.7:c.282C>G ENSP00000413224.3:p.Asn94Lys
ENST00000535958.2:c.*109C>G ENSP00000513673.1:n.*109C>G
ENST00000698339.1:c.282C>G ENSP00000513670.1:p.Asn94Lys
ENST00000698340.1:c.282C>G ENSP00000513671.1:p.Asn94Lys
ENST00000162749.7:c.282C>G MANE Select ENSP00000162749.2:p.Asn94Lys
ENST00000162749.6:c.282C>G ENSP00000162749.2:p.Asn94Lys
ENST00000366159.8:c.282C>G ENSP00000380389.3:p.Asn94Lys
ENST00000437813.7:n.243C>G
ENST00000440083.6:c.282C>G ENSP00000413224.2:p.Asn94Lys
ENST00000534885.5:c.128C>G ENSP00000441803.1:p.Thr43Ser
ENST00000535958.1:n.528C>G
ENST00000536194.1:c.255C>G ENSP00000442919.1:p.Asn85Lys
ENST00000539372.5:c.282C>G ENSP00000442059.1:p.Asn94Lys
ENST00000540022.5:c.194-261C>G ENSP00000438343.1:n.194-261C>G
ENST00000543048.5:c.214+68C>G ENSP00000439981.1:n.214+68C>G
ENST00000543995.5:c.193+314C>G ENSP00000442405.1:n.193+314C>G
NM_001065.3:c.282C>G , LRG_193t1:c.282C>G NP_001056.1:p.Asn94Lys
NM_001346091.1:c.-43C>G NP_001333020.1:n.-43C>G
NM_001346092.1:c.-296C>G NP_001333021.1:n.-296C>G
NR_144351.1:n.585C>G
NM_001065.4:c.282C>G MANE Select NP_001056.1:p.Asn94Lys
NM_001346091.2:c.-43C>G NP_001333020.1:n.-43C>G
NM_001346092.2:c.-296C>G NP_001333021.1:n.-296C>G
NR_144351.2:n.544C>G
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