Canonical Allele Identifier: CA5969930

Gene: LRP4

Linked Data

• ClinVar Variation Id: 304880
• ClinVar RCV Id: RCV000275970 ; RCV001070370
• dbSNP Id: rs374890595
• ExAC: 11:46907982 C / T
• gnomAD v2: 11-46907982-C-T
• gnomAD v3: 11-46886431-C-T
• gnomAD v4: 11-46886431-C-T
• MyVariant Identifiers: chr11:g.46907982C>T (hg19) ; chr11:g.46886431C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.46886431C>T , CM000673.2:g.46886431C>T	GRCh38
NC_000011.9:g.46907982C>T , CM000673.1:g.46907982C>T	GRCh37
NC_000011.8:g.46864558C>T	NCBI36
NG_021394.1:g.37192G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378623.6:c.2318G>A MANE Select	ENSP00000367888.1:p.Arg773His
ENST00000378623.5:c.2318G>A	ENSP00000367888.1:p.Arg773His
ENST00000529921.1:n.349G>A
NM_002334.3:c.2318G>A	NP_002325.2:p.Arg773His
XM_011520102.1:c.2531G>A	XP_011518404.1:p.Arg844His
XM_011520103.1:c.1514G>A	XP_011518405.1:p.Arg505His
XM_011520104.1:c.83G>A	XP_011518406.1:p.Arg28His
XM_011520103.2:c.1514G>A	XP_011518405.1:p.Arg505His
XM_011520104.2:c.83G>A	XP_011518406.1:p.Arg28His
XM_017017734.1:c.2318G>A	XP_016873223.1:p.Arg773His
NM_002334.4:c.2318G>A MANE Select	NP_002325.2:p.Arg773His