Canonical Allele Identifier: CA2588083575

Gene: ANGPTL4 ELAVL1

Linked Data

• gnomAD v4: 19-8371191-G-T

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.8371191G>T , CM000681.2:g.8371191G>T	GRCh38
NC_000019.9:g.8436075G>T , CM000681.1:g.8436075G>T	GRCh37
NC_000019.8:g.8342075G>T	NCBI36
NG_012169.1:g.12065G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000301455.7:c.757+40G>T (ANGPTL4) MANE Select	ENSP00000301455.1:n.757+40G>T
ENST00000301455.6:c.757+40G>T (ANGPTL4)	ENSP00000301455.1:n.757+40G>T
ENST00000351593.9:c.-88+73815C>A (ELAVL1)	ENSP00000264073.6:n.-88+73815C>A
ENST00000393962.6:c.643+40G>T (ANGPTL4)	ENSP00000377534.1:n.643+40G>T
ENST00000593998.5:c.757+40G>T (ANGPTL4)	ENSP00000472551.1:n.757+40G>T
ENST00000594348.1:n.950G>T (ANGPTL4)
ENST00000594875.1:c.354-3002G>T (ANGPTL4)
ENST00000595079.5:c.*300+40G>T (ANGPTL4)	ENSP00000473025.1:n.*300+40G>T
ENST00000597137.5:n.543G>T (ANGPTL4)
ENST00000598255.5:n.839G>T (ANGPTL4)
NM_001039667.2:c.643+40G>T (ANGPTL4)	NP_001034756.1:n.643+40G>T
NM_139314.2:c.757+40G>T (ANGPTL4)	NP_647475.1:n.757+40G>T
NR_104213.1:n.625-3002G>T (ANGPTL4)
XM_005272484.2:c.757+40G>T (ANGPTL4)	XP_005272541.1:n.757+40G>T
XM_005272485.2:c.643+40G>T (ANGPTL4)	XP_005272542.1:n.643+40G>T
XM_005272484.3:c.757+40G>T (ANGPTL4)	XP_005272541.1:n.757+40G>T
XM_005272485.3:c.643+40G>T (ANGPTL4)	XP_005272542.1:n.643+40G>T
NM_139314.3:c.757+40G>T (ANGPTL4) MANE Select	NP_647475.1:n.757+40G>T
NM_001039667.3:c.643+40G>T (ANGPTL4)	NP_001034756.1:n.643+40G>T
NR_104213.2:n.597-3002G>T (ANGPTL4)