Canonical Allele Identifier: CA5969547
Gene: LRP4 HGNC NCBI
MyVariant.info:
GRCh38 chr11:g.46875946C>A
GRCh37 chr11:g.46897497C>A
Revel Score:
ENST00000378623 (MANE Select) 0.827
gnomAD v2:
11:46897497 C / A
gnomAD v3:
11:46875946 C / A
gnomAD v4:
chr11-46875946-C-A
Joint Max Group AF 0.00000803 (NFE)
Exomes Max Group AF 0.0000081 (NFE)
ClinVar RCV:
RCV003075014
ClinVar Variation:
2152388
dbSNP:
387906883
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.46875946C>A , CM000673.2:g.46875946C>A GRCh38
NC_000011.9:g.46897497C>A , CM000673.1:g.46897497C>A GRCh37
NC_000011.8:g.46854073C>A NCBI36
NG_021394.1:g.47677G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000378623.6:c.3557G>T MANE Select ENSP00000367888.1:p.Trp1186Leu
ENST00000378623.5:c.3557G>T ENSP00000367888.1:p.Trp1186Leu
NM_002334.3:c.3557G>T NP_002325.2:p.Trp1186Leu
XM_011520102.1:c.3770G>T XP_011518404.1:p.Trp1257Leu
XM_011520103.1:c.2753G>T XP_011518405.1:p.Trp918Leu
XM_011520104.1:c.1322G>T XP_011518406.1:p.Trp441Leu
XM_011520103.2:c.2753G>T XP_011518405.1:p.Trp918Leu
XM_011520104.2:c.1322G>T XP_011518406.1:p.Trp441Leu
XM_017017734.1:c.3557G>T XP_016873223.1:p.Trp1186Leu
NM_002334.4:c.3557G>T MANE Select NP_002325.2:p.Trp1186Leu
Search 100 bp 5'
Search 100 bp 3'