Canonical Allele Identifier: CA5970622

Gene: LRP4

Linked Data

• ClinVar Variation Id: 283859
• ClinVar RCV Id: RCV000377416
• dbSNP Id: rs533361745
• ExAC: 11:46939870 G / T
• gnomAD v2: 11-46939870-G-T
• gnomAD v3: 11-46918319-G-T
• gnomAD v4: 11-46918319-G-T
• MyVariant Identifiers: chr11:g.46939870G>T (hg19) ; chr11:g.46918319G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.46918319G>T , CM000673.2:g.46918319G>T	GRCh38
NC_000011.9:g.46939870G>T , CM000673.1:g.46939870G>T	GRCh37
NC_000011.8:g.46896446G>T	NCBI36
NG_021394.1:g.5304C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378623.6:c.52+9C>A MANE Select	ENSP00000367888.1:n.52+9C>A
ENST00000378623.5:c.52+9C>A	ENSP00000367888.1:n.52+9C>A
ENST00000534404.1:c.52+9C>A	ENSP00000434763.1:n.52+9C>A
NM_002334.3:c.52+9C>A	NP_002325.2:n.52+9C>A
XM_017017734.1:c.52+9C>A	XP_016873223.1:n.52+9C>A
NM_002334.4:c.52+9C>A MANE Select	NP_002325.2:n.52+9C>A