Canonical Allele Identifier: CA5969770
Gene: LRP4 HGNC NCBI
MyVariant.info:
GRCh38 chr11:g.46879321A>C
GRCh37 chr11:g.46900872A>C
gnomAD v2:
11:46900872 A / C
gnomAD v3:
11:46879321 A / C
gnomAD v4:
chr11-46879321-A-C
Joint Max Group AF 0.00079281 (AFR)
Genomes Max Group AF 0.00074639 (AFR)
Exomes Max Group AF 0.00069499 (AFR)
ClinVar Allele:
270150
ClinVar RCV:
RCV000376467
RCV001088893
RCV004543072
ClinVar Variation:
285913
dbSNP:
372210790
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.46879321A>C , CM000673.2:g.46879321A>C GRCh38
NC_000011.9:g.46900872A>C , CM000673.1:g.46900872A>C GRCh37
NC_000011.8:g.46857448A>C NCBI36
NG_021394.1:g.44302T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000378623.6:c.2815-6T>G MANE Select ENSP00000367888.1:n.2815-6T>G
ENST00000378623.5:c.2815-6T>G ENSP00000367888.1:n.2815-6T>G
NM_002334.3:c.2815-6T>G NP_002325.2:n.2815-6T>G
XM_011520102.1:c.3028-6T>G XP_011518404.1:n.3028-6T>G
XM_011520103.1:c.2011-6T>G XP_011518405.1:n.2011-6T>G
XM_011520104.1:c.580-6T>G XP_011518406.1:n.580-6T>G
XM_011520103.2:c.2011-6T>G XP_011518405.1:n.2011-6T>G
XM_011520104.2:c.580-6T>G XP_011518406.1:n.580-6T>G
XM_017017734.1:c.2815-6T>G XP_016873223.1:n.2815-6T>G
NM_002334.4:c.2815-6T>G MANE Select NP_002325.2:n.2815-6T>G
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