Canonical Allele Identifier: CA5970428

Gene: LRP4

Linked Data

• ClinVar Variation Id: 304899
• ClinVar RCV Id: RCV000260468 ; RCV002056205
• dbSNP Id: rs200963011
• ExAC: 11:46920442 C / T
• gnomAD v2: 11-46920442-C-T
• gnomAD v3: 11-46898891-C-T
• gnomAD v4: 11-46898891-C-T
• MyVariant Identifiers: chr11:g.46920442C>T (hg19) ; chr11:g.46898891C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.46898891C>T , CM000673.2:g.46898891C>T	GRCh38
NC_000011.9:g.46920442C>T , CM000673.1:g.46920442C>T	GRCh37
NC_000011.8:g.46877018C>T	NCBI36
NG_021394.1:g.24732G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378623.6:c.676+13G>A MANE Select	ENSP00000367888.1:n.676+13G>A
ENST00000378623.5:c.676+13G>A	ENSP00000367888.1:n.676+13G>A
NM_002334.3:c.676+13G>A	NP_002325.2:n.676+13G>A
XM_011520102.1:c.889+13G>A	XP_011518404.1:n.889+13G>A
XM_017017734.1:c.676+13G>A	XP_016873223.1:n.676+13G>A
NM_002334.4:c.676+13G>A MANE Select	NP_002325.2:n.676+13G>A