Canonical Allele Identifier: CA14654126
Gene: ANGPTL4 HGNC NCBI
ELAVL1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.8366697G>A , CM000681.2:g.8366697G>A GRCh38
NC_000019.9:g.8431581G>A , CM000681.1:g.8431581G>A GRCh37
NC_000019.8:g.8337581G>A NCBI36
NG_012169.1:g.7571G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000301455.7:c.547+378G>A (ANGPTL4) MANE Select ENSP00000301455.1:n.547+378G>A
ENST00000301455.6:c.547+378G>A (ANGPTL4) ENSP00000301455.1:n.547+378G>A
ENST00000351593.9:c.-88+78309C>T (ELAVL1) ENSP00000264073.6:n.-88+78309C>T
ENST00000393962.6:c.547+378G>A (ANGPTL4) ENSP00000377534.1:n.547+378G>A
ENST00000593998.5:c.547+378G>A (ANGPTL4) ENSP00000472551.1:n.547+378G>A
ENST00000594348.1:n.700+378G>A (ANGPTL4)
ENST00000594875.1:c.353+633G>A (ANGPTL4)
ENST00000595079.5:c.*90+378G>A (ANGPTL4) ENSP00000473025.1:n.*90+378G>A
ENST00000597137.5:n.293+378G>A (ANGPTL4)
ENST00000598255.5:n.703+378G>A (ANGPTL4)
NM_001039667.2:c.547+378G>A (ANGPTL4) NP_001034756.1:n.547+378G>A
NM_139314.2:c.547+378G>A (ANGPTL4) NP_647475.1:n.547+378G>A
NR_104213.1:n.624+633G>A (ANGPTL4)
XM_005272484.2:c.547+378G>A (ANGPTL4) XP_005272541.1:n.547+378G>A
XM_005272485.2:c.547+378G>A (ANGPTL4) XP_005272542.1:n.547+378G>A
XM_005272484.3:c.547+378G>A (ANGPTL4) XP_005272541.1:n.547+378G>A
XM_005272485.3:c.547+378G>A (ANGPTL4) XP_005272542.1:n.547+378G>A
NM_139314.3:c.547+378G>A (ANGPTL4) MANE Select NP_647475.1:n.547+378G>A
NM_001039667.3:c.547+378G>A (ANGPTL4) NP_001034756.1:n.547+378G>A
NR_104213.2:n.596+633G>A (ANGPTL4)