Canonical Allele Identifier: CA5970564

Gene: LRP4

Linked Data

• ClinVar Variation Id: 535796
• ClinVar RCV Id: RCV000643975 ; RCV003129960 ; RCV003243230 ; RCV004533364
• dbSNP Id: rs138239756
• ExAC: 11:46921872 C / T
• gnomAD v2: 11-46921872-C-T
• gnomAD v3: 11-46900321-C-T
• gnomAD v4: 11-46900321-C-T
• MyVariant Identifiers: chr11:g.46921872C>T (hg19) ; chr11:g.46900321C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.46900321C>T , CM000673.2:g.46900321C>T	GRCh38
NC_000011.9:g.46921872C>T , CM000673.1:g.46921872C>T	GRCh37
NC_000011.8:g.46878448C>T	NCBI36
NG_021394.1:g.23302G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378623.6:c.257G>A MANE Select	ENSP00000367888.1:p.Arg86His
ENST00000378623.5:c.257G>A	ENSP00000367888.1:p.Arg86His
ENST00000534404.1:c.110G>A	ENSP00000434763.1:p.Arg37His
NM_002334.3:c.257G>A	NP_002325.2:p.Arg86His
XM_011520102.1:c.470G>A	XP_011518404.1:p.Arg157His
XM_017017734.1:c.257G>A	XP_016873223.1:p.Arg86His
NM_002334.4:c.257G>A MANE Select	NP_002325.2:p.Arg86His