Canonical Allele Identifier: CA5969930
Gene: LRP4 HGNC NCBI
MyVariant.info:
GRCh38 chr11:g.46886431C>T
GRCh37 chr11:g.46907982C>T
Revel Score:
ENST00000378623 (MANE Select) 0.713
gnomAD v2:
11:46907982 C / T
gnomAD v3:
11:46886431 C / T
gnomAD v4:
chr11-46886431-C-T
Joint Max Group AF 0.00059452 (EAS)
Genomes Max Group AF 0.00050281 (EAS)
Exomes Max Group AF 0.00054345 (EAS)
ClinVar RCV:
RCV000275970
RCV001070370
ClinVar Variation:
304880
dbSNP:
374890595
JSON-LD

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
Search 100 bp 5'
Search 100 bp 3'