Canonical Allele Identifier: CA9155973
Gene: ANGPTL4 HGNC NCBI
ELAVL1 HGNC NCBI
ClinVar RCV:
RCV004090254
ClinVar Variation:
2222719
COSMIC:
COSM2730240
dbSNP:
752602300
gnomAD v2:
19:8431194 C / T
gnomAD v3:
19:8366310 C / T
gnomAD v4:
chr19-8366310-C-T
Joint Max Group AF 0.00004781 (NFE)
Genomes Max Group AF 0.00003762 (NFE)
Exomes Max Group AF 0.00004612 (NFE)
MyVariant.info:
GRCh38 chr19:g.8366310C>T
GRCh37 chr19:g.8431194C>T
Revel Score:
ENST00000301455 (MANE Select) 0.084
ENST00000393962 0.084
ENST00000541807 0.084
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.8366310C>T , CM000681.2:g.8366310C>T GRCh38
NC_000019.9:g.8431194C>T , CM000681.1:g.8431194C>T GRCh37
NC_000019.8:g.8337194C>T NCBI36
NG_012169.1:g.7184C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000301455.7:c.538C>T (ANGPTL4) MANE Select ENSP00000301455.1:p.Arg180Cys
ENST00000301455.6:c.538C>T (ANGPTL4) ENSP00000301455.1:p.Arg180Cys
ENST00000351593.9:c.-88+78696G>A (ELAVL1) ENSP00000264073.6:n.-88+78696G>A
ENST00000393962.6:c.538C>T (ANGPTL4) ENSP00000377534.1:p.Arg180Cys
ENST00000593998.5:c.538C>T (ANGPTL4) ENSP00000472551.1:p.Arg180Cys
ENST00000594348.1:n.691C>T (ANGPTL4)
ENST00000594875.1:c.353+246C>T (ANGPTL4)
ENST00000595079.5:c.*81C>T (ANGPTL4) ENSP00000473025.1:n.*81C>T
ENST00000597137.5:n.284C>T (ANGPTL4)
ENST00000598255.5:n.694C>T (ANGPTL4)
NM_001039667.2:c.538C>T (ANGPTL4) NP_001034756.1:p.Arg180Cys
NM_139314.2:c.538C>T (ANGPTL4) NP_647475.1:p.Arg180Cys
NR_104213.1:n.624+246C>T (ANGPTL4)
XM_005272484.2:c.538C>T (ANGPTL4) XP_005272541.1:p.Arg180Cys
XM_005272485.2:c.538C>T (ANGPTL4) XP_005272542.1:p.Arg180Cys
XM_005272484.3:c.538C>T (ANGPTL4) XP_005272541.1:p.Arg180Cys
XM_005272485.3:c.538C>T (ANGPTL4) XP_005272542.1:p.Arg180Cys
NM_139314.3:c.538C>T (ANGPTL4) MANE Select NP_647475.1:p.Arg180Cys
NM_001039667.3:c.538C>T (ANGPTL4) NP_001034756.1:p.Arg180Cys
NR_104213.2:n.596+246C>T (ANGPTL4)
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