Canonical Allele Identifier: CA9156082
Gene: ANGPTL4 HGNC NCBI
ELAVL1 HGNC NCBI

Linked Data

dbSNP Id: rs763231211
gnomAD v2: 19-8436092-C-T
gnomAD v4: 19-8371208-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.8371208C>T , CM000681.2:g.8371208C>T GRCh38
NC_000019.9:g.8436092C>T , CM000681.1:g.8436092C>T GRCh37
NC_000019.8:g.8342092C>T NCBI36
NG_012169.1:g.12082C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000301455.7:c.758-33C>T (ANGPTL4) MANE Select ENSP00000301455.1:n.758-33C>T
ENST00000301455.6:c.758-33C>T (ANGPTL4) ENSP00000301455.1:n.758-33C>T
ENST00000351593.9:c.-88+73798G>A (ELAVL1) ENSP00000264073.6:n.-88+73798G>A
ENST00000393962.6:c.644-33C>T (ANGPTL4) ENSP00000377534.1:n.644-33C>T
ENST00000593998.5:c.758-33C>T (ANGPTL4) ENSP00000472551.1:n.758-33C>T
ENST00000594348.1:n.967C>T (ANGPTL4)
ENST00000594875.1:c.354-2985C>T (ANGPTL4)
ENST00000595079.5:c.*301-33C>T (ANGPTL4) ENSP00000473025.1:n.*301-33C>T
ENST00000597137.5:n.560C>T (ANGPTL4)
ENST00000598255.5:n.856C>T (ANGPTL4)
NM_001039667.2:c.644-33C>T (ANGPTL4) NP_001034756.1:n.644-33C>T
NM_139314.2:c.758-33C>T (ANGPTL4) NP_647475.1:n.758-33C>T
NR_104213.1:n.625-2985C>T (ANGPTL4)
XM_005272484.2:c.758-33C>T (ANGPTL4) XP_005272541.1:n.758-33C>T
XM_005272485.2:c.644-33C>T (ANGPTL4) XP_005272542.1:n.644-33C>T
XM_005272484.3:c.758-33C>T (ANGPTL4) XP_005272541.1:n.758-33C>T
XM_005272485.3:c.644-33C>T (ANGPTL4) XP_005272542.1:n.644-33C>T
NM_139314.3:c.758-33C>T (ANGPTL4) MANE Select NP_647475.1:n.758-33C>T
NM_001039667.3:c.644-33C>T (ANGPTL4) NP_001034756.1:n.644-33C>T
NR_104213.2:n.597-2985C>T (ANGPTL4)