Canonical Allele Identifier: CA383550664

Gene: TNFRSF1A

Linked Data

• gnomAD v4: 12-6333828-C-G
• MyVariant Identifiers: chr12:g.6442994C>G (hg19) ; chr12:g.6333828C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.6333828C>G , CM000674.2:g.6333828C>G	GRCh38
NC_000012.11:g.6442994C>G , CM000674.1:g.6442994C>G	GRCh37
NC_000012.10:g.6313255C>G	NCBI36
NG_007506.1:g.13268G>C , LRG_193:g.13268G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000366159.9:n.265G>C
ENST00000437813.8:c.231G>C	ENSP00000513672.1:p.Gln77His
ENST00000440083.7:c.231G>C	ENSP00000413224.3:p.Gln77His
ENST00000535958.2:c.*58G>C	ENSP00000513673.1:n.*58G>C
ENST00000698339.1:c.231G>C	ENSP00000513670.1:p.Gln77His
ENST00000698340.1:c.231G>C	ENSP00000513671.1:p.Gln77His
ENST00000162749.7:c.231G>C MANE Select	ENSP00000162749.2:p.Gln77His
ENST00000162749.6:c.231G>C	ENSP00000162749.2:p.Gln77His
ENST00000366159.8:c.231G>C	ENSP00000380389.3:p.Gln77His
ENST00000437813.7:n.192G>C
ENST00000440083.6:c.231G>C	ENSP00000413224.2:p.Gln77His
ENST00000534885.5:c.77G>C	ENSP00000441803.1:p.Arg26Thr
ENST00000535958.1:n.477G>C
ENST00000536194.1:c.204G>C	ENSP00000442919.1:p.Gln68His
ENST00000539372.5:c.231G>C	ENSP00000442059.1:p.Gln77His
ENST00000540022.5:c.193+263G>C	ENSP00000438343.1:n.193+263G>C
ENST00000543048.5:c.214+17G>C	ENSP00000439981.1:n.214+17G>C
ENST00000543995.5:c.193+263G>C	ENSP00000442405.1:n.193+263G>C
NM_001065.3:c.231G>C , LRG_193t1:c.231G>C	NP_001056.1:p.Gln77His
NM_001346091.1:c.-94G>C	NP_001333020.1:n.-94G>C
NM_001346092.1:c.-347G>C	NP_001333021.1:n.-347G>C
NR_144351.1:n.534G>C
NM_001065.4:c.231G>C MANE Select	NP_001056.1:p.Gln77His
NM_001346091.2:c.-94G>C	NP_001333020.1:n.-94G>C
NM_001346092.2:c.-347G>C	NP_001333021.1:n.-347G>C
NR_144351.2:n.493G>C