Canonical Allele Identifier: CA9156096

Gene: ANGPTL4 ELAVL1

Linked Data

• dbSNP Id: rs748220039
• ExAC: 19:8436165 G / C
• gnomAD v2: 19-8436165-G-C
• gnomAD v3: 19-8371281-G-C
• gnomAD v4: 19-8371281-G-C
• MyVariant Identifiers: chr19:g.8436165G>C (hg19) ; chr19:g.8371281G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.8371281G>C , CM000681.2:g.8371281G>C	GRCh38
NC_000019.9:g.8436165G>C , CM000681.1:g.8436165G>C	GRCh37
NC_000019.8:g.8342165G>C	NCBI36
NG_012169.1:g.12155G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000301455.7:c.798G>C (ANGPTL4) MANE Select	ENSP00000301455.1:p.Thr266=
ENST00000301455.6:c.798G>C (ANGPTL4)	ENSP00000301455.1:p.Thr266=
ENST00000351593.9:c.-88+73725C>G (ELAVL1)	ENSP00000264073.6:n.-88+73725C>G
ENST00000393962.6:c.684G>C (ANGPTL4)	ENSP00000377534.1:p.Thr228=
ENST00000593998.5:c.798G>C (ANGPTL4)	ENSP00000472551.1:p.Thr266=
ENST00000594875.1:c.354-2912G>C (ANGPTL4)
ENST00000595079.5:c.*341G>C (ANGPTL4)	ENSP00000473025.1:n.*341G>C
NM_001039667.2:c.684G>C (ANGPTL4)	NP_001034756.1:p.Thr228=
NM_139314.2:c.798G>C (ANGPTL4)	NP_647475.1:p.Thr266=
NR_104213.1:n.625-2912G>C (ANGPTL4)
XM_005272484.2:c.798G>C (ANGPTL4)	XP_005272541.1:p.Thr266=
XM_005272485.2:c.684G>C (ANGPTL4)	XP_005272542.1:p.Thr228=
XM_005272484.3:c.798G>C (ANGPTL4)	XP_005272541.1:p.Thr266=
XM_005272485.3:c.684G>C (ANGPTL4)	XP_005272542.1:p.Thr228=
NM_139314.3:c.798G>C (ANGPTL4) MANE Select	NP_647475.1:p.Thr266=
NM_001039667.3:c.684G>C (ANGPTL4)	NP_001034756.1:p.Thr228=
NR_104213.2:n.597-2912G>C (ANGPTL4)