Canonical Allele Identifier: CA512425
Gene: TNFRSF4 HGNC NCBI

Linked Data

ClinVar Variation Id: 403556
ClinVar RCV Id: RCV000455786
dbSNP Id: rs17568
ExAC: 1:1147422 C / T
gnomAD v2: 1-1147422-C-T
gnomAD v3: 1-1212042-C-T
gnomAD v4: 1-1212042-C-T
MyVariant Identifiers: chr1:g.1147422C>T (hg19) chr1:g.1212042C>T (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.1212042C>T , CM000663.2:g.1212042C>T GRCh38
NC_000001.10:g.1147422C>T , CM000663.1:g.1147422C>T GRCh37
NC_000001.9:g.1137285C>T NCBI36
NG_046896.1:g.7597G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000699969.1:c.597G>A ENSP00000514726.1:p.Glu199=
ENST00000699970.1:c.491G>A ENSP00000514727.1:p.Arg164Lys
ENST00000699971.1:c.534G>A ENSP00000514728.1:p.Glu178=
ENST00000699972.1:n.1129G>A
ENST00000699973.1:c.*14+38G>A ENSP00000514729.1:n.*14+38G>A
ENST00000699974.1:c.534G>A ENSP00000514730.1:p.Glu178=
ENST00000699975.1:c.371-210G>A ENSP00000514731.1:n.371-210G>A
ENST00000699976.1:c.438-210G>A ENSP00000514732.1:n.438-210G>A
ENST00000699977.1:c.534G>A ENSP00000514733.1:p.Glu178=
ENST00000699978.1:c.422G>A ENSP00000514734.1:p.Arg141Lys
ENST00000699979.1:c.467G>A ENSP00000514735.1:p.Arg156Lys
ENST00000379236.4:c.534G>A MANE Select ENSP00000368538.3:p.Glu178=
ENST00000379236.3:c.534G>A ENSP00000368538.3:p.Glu178=
ENST00000453580.1:n.370G>A
ENST00000497869.5:n.1114G>A
NM_003327.3:c.534G>A NP_003318.1:p.Glu178=
XM_011542074.1:c.546G>A XP_011540376.1:p.Glu182=
XM_011542075.1:c.534G>A XP_011540377.1:p.Glu178=
XM_011542076.1:c.546G>A XP_011540378.1:p.Glu182=
XM_011542077.1:c.234G>A XP_011540379.1:p.Glu78=
XM_011542074.2:c.546G>A XP_011540376.1:p.Glu182=
XM_011542075.2:c.534G>A XP_011540377.1:p.Glu178=
XM_011542076.2:c.546G>A XP_011540378.1:p.Glu182=
XM_011542077.2:c.234G>A XP_011540379.1:p.Glu78=
XM_017002231.1:c.534G>A XP_016857720.1:p.Glu178=
XM_017002232.1:c.534G>A XP_016857721.1:p.Glu178=
NM_003327.4:c.534G>A MANE Select NP_003318.1:p.Glu178=
Search 100 bp 5'
Search 100 bp 3'