Canonical Allele Identifier: CA403724833
Gene: ANGPTL4 HGNC NCBI
ELAVL1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.8373866G>A , CM000681.2:g.8373866G>A GRCh38
NC_000019.9:g.8438750G>A , CM000681.1:g.8438750G>A GRCh37
NC_000019.8:g.8344750G>A NCBI36
NG_012169.1:g.14740G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000301455.7:c.1201G>A (ANGPTL4) MANE Select ENSP00000301455.1:p.Ala401Thr
ENST00000301455.6:c.1201G>A (ANGPTL4) ENSP00000301455.1:p.Ala401Thr
ENST00000351593.9:c.-88+71140C>T (ELAVL1) ENSP00000264073.6:n.-88+71140C>T
ENST00000393962.6:c.1087G>A (ANGPTL4) ENSP00000377534.1:p.Ala363Thr
ENST00000593998.5:c.1201G>A (ANGPTL4) ENSP00000472551.1:p.Ala401Thr
ENST00000594875.1:c.354-327G>A (ANGPTL4)
ENST00000595079.5:c.*744G>A (ANGPTL4) ENSP00000473025.1:n.*744G>A
NM_001039667.2:c.1087G>A (ANGPTL4) NP_001034756.1:p.Ala363Thr
NM_139314.2:c.1201G>A (ANGPTL4) NP_647475.1:p.Ala401Thr
NR_104213.1:n.625-327G>A (ANGPTL4)
XM_005272484.2:c.1255G>A (ANGPTL4) XP_005272541.1:p.Ala419Thr
XM_005272485.2:c.1141G>A (ANGPTL4) XP_005272542.1:p.Ala381Thr
XM_005272484.3:c.1255G>A (ANGPTL4) XP_005272541.1:p.Ala419Thr
XM_005272485.3:c.1141G>A (ANGPTL4) XP_005272542.1:p.Ala381Thr
NM_139314.3:c.1201G>A (ANGPTL4) MANE Select NP_647475.1:p.Ala401Thr
NM_001039667.3:c.1087G>A (ANGPTL4) NP_001034756.1:p.Ala363Thr
NR_104213.2:n.597-327G>A (ANGPTL4)