Canonical Allele Identifier: CA383545657

Gene: TNFRSF1A

Linked Data

• MyVariant Identifiers: chr12:g.6438984C>G (hg19) ; chr12:g.6329818C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.6329818C>G , CM000674.2:g.6329818C>G	GRCh38
NC_000012.11:g.6438984C>G , CM000674.1:g.6438984C>G	GRCh37
NC_000012.10:g.6309245C>G	NCBI36
NG_007506.1:g.17278G>C , LRG_193:g.17278G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000366159.9:n.2118G>C
ENST00000437813.8:c.*478G>C	ENSP00000513672.1:n.*478G>C
ENST00000440083.7:c.1236G>C	ENSP00000413224.3:p.Gln412His
ENST00000535958.2:c.*844G>C	ENSP00000513673.1:n.*844G>C
ENST00000698337.1:n.978G>C
ENST00000698338.1:n.1631G>C
ENST00000698339.1:c.*512G>C	ENSP00000513670.1:n.*512G>C
ENST00000698340.1:c.*256G>C	ENSP00000513671.1:n.*256G>C
ENST00000162749.7:c.1017G>C MANE Select	ENSP00000162749.2:p.Gln339His
ENST00000162749.6:c.1017G>C	ENSP00000162749.2:p.Gln339His
ENST00000534885.5:c.*494G>C	ENSP00000441803.1:n.*494G>C
ENST00000536717.5:n.921G>C
ENST00000540022.5:c.888G>C	ENSP00000438343.1:p.Gln296His
ENST00000543359.5:n.429G>C
ENST00000543995.5:c.*604G>C	ENSP00000442405.1:n.*604G>C
NM_001065.3:c.1017G>C , LRG_193t1:c.1017G>C	NP_001056.1:p.Gln339His
NM_001346091.1:c.693G>C	NP_001333020.1:p.Gln231His
NM_001346092.1:c.558G>C	NP_001333021.1:p.Gln186His
NR_144351.1:n.1246G>C
NM_001065.4:c.1017G>C MANE Select	NP_001056.1:p.Gln339His
NM_001346091.2:c.693G>C	NP_001333020.1:p.Gln231His
NM_001346092.2:c.558G>C	NP_001333021.1:p.Gln186His
NR_144351.2:n.1205G>C