Canonical Allele Identifier: CA5970337

Gene: LRP4

Linked Data

• ClinVar Variation Id: 304893
• ClinVar RCV Id: RCV000272713 ; RCV002056204
• dbSNP Id: rs771013783
• ExAC: 11:46918407 C / T
• gnomAD v2: 11-46918407-C-T
• gnomAD v3: 11-46896856-C-T
• gnomAD v4: 11-46896856-C-T
• MyVariant Identifiers: chr11:g.46918407C>T (hg19) ; chr11:g.46896856C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.46896856C>T , CM000673.2:g.46896856C>T	GRCh38
NC_000011.9:g.46918407C>T , CM000673.1:g.46918407C>T	GRCh37
NC_000011.8:g.46874983C>T	NCBI36
NG_021394.1:g.26767G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378623.6:c.922+13G>A MANE Select	ENSP00000367888.1:n.922+13G>A
ENST00000378623.5:c.922+13G>A	ENSP00000367888.1:n.922+13G>A
NM_002334.3:c.922+13G>A	NP_002325.2:n.922+13G>A
XM_011520102.1:c.1135+13G>A	XP_011518404.1:n.1135+13G>A
XM_011520103.1:c.118+13G>A	XP_011518405.1:n.118+13G>A
XM_011520103.2:c.118+13G>A	XP_011518405.1:n.118+13G>A
XM_017017734.1:c.922+13G>A	XP_016873223.1:n.922+13G>A
NM_002334.4:c.922+13G>A MANE Select	NP_002325.2:n.922+13G>A