Canonical Allele Identifier: CA129195
Gene: LRP4 HGNC NCBI
MyVariant.info:
GRCh38 chr11:g.46876494G>A
GRCh37 chr11:g.46898045G>A
Revel Score:
ENST00000378623 (MANE Select) 0.898
gnomAD v2:
11:46898045 G / A
gnomAD v4:
chr11-46876494-G-A
Joint Max Group AF 7.9e-7 (NFE)
Exomes Max Group AF 8.4e-7 (NFE)
ClinVar RCV:
RCV000023364
ClinVar Variation:
30411
dbSNP:
387906884
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.46876494G>A , CM000673.2:g.46876494G>A GRCh38
NC_000011.9:g.46898045G>A , CM000673.1:g.46898045G>A GRCh37
NC_000011.8:g.46854621G>A NCBI36
NG_021394.1:g.47129C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000378623.6:c.3508C>T MANE Select ENSP00000367888.1:p.Arg1170Trp
ENST00000378623.5:c.3508C>T ENSP00000367888.1:p.Arg1170Trp
NM_002334.3:c.3508C>T NP_002325.2:p.Arg1170Trp
XM_011520102.1:c.3721C>T XP_011518404.1:p.Arg1241Trp
XM_011520103.1:c.2704C>T XP_011518405.1:p.Arg902Trp
XM_011520104.1:c.1273C>T XP_011518406.1:p.Arg425Trp
XM_011520103.2:c.2704C>T XP_011518405.1:p.Arg902Trp
XM_011520104.2:c.1273C>T XP_011518406.1:p.Arg425Trp
XM_017017734.1:c.3508C>T XP_016873223.1:p.Arg1170Trp
NM_002334.4:c.3508C>T MANE Select NP_002325.2:p.Arg1170Trp
Search 100 bp 5'
Search 100 bp 3'