Canonical Allele Identifier: CA884311640
Gene: ANGPTL4 HGNC NCBI
ELAVL1 HGNC NCBI

Linked Data

dbSNP Id: rs766875709
gnomAD v3: 19-8371210-C-G
gnomAD v4: 19-8371210-C-G

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.8371210C>G , CM000681.2:g.8371210C>G GRCh38
NC_000019.9:g.8436094C>G , CM000681.1:g.8436094C>G GRCh37
NC_000019.8:g.8342094C>G NCBI36
NG_012169.1:g.12084C>G

Transcript Alleles

HGVS Amino-acid change
ENST00000301455.7:c.758-31C>G (ANGPTL4) MANE Select ENSP00000301455.1:n.758-31C>G
ENST00000301455.6:c.758-31C>G (ANGPTL4) ENSP00000301455.1:n.758-31C>G
ENST00000351593.9:c.-88+73796G>C (ELAVL1) ENSP00000264073.6:n.-88+73796G>C
ENST00000393962.6:c.644-31C>G (ANGPTL4) ENSP00000377534.1:n.644-31C>G
ENST00000593998.5:c.758-31C>G (ANGPTL4) ENSP00000472551.1:n.758-31C>G
ENST00000594348.1:n.969C>G (ANGPTL4)
ENST00000594875.1:c.354-2983C>G (ANGPTL4)
ENST00000595079.5:c.*301-31C>G (ANGPTL4) ENSP00000473025.1:n.*301-31C>G
ENST00000597137.5:n.562C>G (ANGPTL4)
ENST00000598255.5:n.858C>G (ANGPTL4)
NM_001039667.2:c.644-31C>G (ANGPTL4) NP_001034756.1:n.644-31C>G
NM_139314.2:c.758-31C>G (ANGPTL4) NP_647475.1:n.758-31C>G
NR_104213.1:n.625-2983C>G (ANGPTL4)
XM_005272484.2:c.758-31C>G (ANGPTL4) XP_005272541.1:n.758-31C>G
XM_005272485.2:c.644-31C>G (ANGPTL4) XP_005272542.1:n.644-31C>G
XM_005272484.3:c.758-31C>G (ANGPTL4) XP_005272541.1:n.758-31C>G
XM_005272485.3:c.644-31C>G (ANGPTL4) XP_005272542.1:n.644-31C>G
NM_139314.3:c.758-31C>G (ANGPTL4) MANE Select NP_647475.1:n.758-31C>G
NM_001039667.3:c.644-31C>G (ANGPTL4) NP_001034756.1:n.644-31C>G
NR_104213.2:n.597-2983C>G (ANGPTL4)