Canonical Allele Identifier: CA9156098

Gene: ANGPTL4 ELAVL1

Linked Data

• dbSNP Id: rs773121891
• ExAC: 19:8436172 C / T
• gnomAD v2: 19-8436172-C-T
• gnomAD v3: 19-8371288-C-T
• gnomAD v4: 19-8371288-C-T
• MyVariant Identifiers: chr19:g.8436172C>T (hg19) ; chr19:g.8371288C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.8371288C>T , CM000681.2:g.8371288C>T	GRCh38
NC_000019.9:g.8436172C>T , CM000681.1:g.8436172C>T	GRCh37
NC_000019.8:g.8342172C>T	NCBI36
NG_012169.1:g.12162C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000301455.7:c.805C>T (ANGPTL4) MANE Select	ENSP00000301455.1:p.Arg269Cys
ENST00000301455.6:c.805C>T (ANGPTL4)	ENSP00000301455.1:p.Arg269Cys
ENST00000351593.9:c.-88+73718G>A (ELAVL1)	ENSP00000264073.6:n.-88+73718G>A
ENST00000393962.6:c.691C>T (ANGPTL4)	ENSP00000377534.1:p.Arg231Cys
ENST00000593998.5:c.805C>T (ANGPTL4)	ENSP00000472551.1:p.Arg269Cys
ENST00000594875.1:c.354-2905C>T (ANGPTL4)
ENST00000595079.5:c.*348C>T (ANGPTL4)	ENSP00000473025.1:n.*348C>T
NM_001039667.2:c.691C>T (ANGPTL4)	NP_001034756.1:p.Arg231Cys
NM_139314.2:c.805C>T (ANGPTL4)	NP_647475.1:p.Arg269Cys
NR_104213.1:n.625-2905C>T (ANGPTL4)
XM_005272484.2:c.805C>T (ANGPTL4)	XP_005272541.1:p.Arg269Cys
XM_005272485.2:c.691C>T (ANGPTL4)	XP_005272542.1:p.Arg231Cys
XM_005272484.3:c.805C>T (ANGPTL4)	XP_005272541.1:p.Arg269Cys
XM_005272485.3:c.691C>T (ANGPTL4)	XP_005272542.1:p.Arg231Cys
NM_139314.3:c.805C>T (ANGPTL4) MANE Select	NP_647475.1:p.Arg269Cys
NM_001039667.3:c.691C>T (ANGPTL4)	NP_001034756.1:p.Arg231Cys
NR_104213.2:n.597-2905C>T (ANGPTL4)