Canonical Allele Identifier: CA13460939
Gene: LRP4 HGNC NCBI
MyVariant.info:
GRCh38 chr11:g.46875357G>C
GRCh37 chr11:g.46896908G>C
gnomAD v2:
11:46896908 G / C
gnomAD v3:
11:46875357 G / C
gnomAD v4:
chr11-46875357-G-C
Joint Max Group AF 0.61064736 (EAS)
Genomes Max Group AF 0.58652826 (EAS)
Exomes Max Group AF 0.61205823 (EAS)
ClinVar RCV:
RCV001674684
ClinVar Variation:
1263690
dbSNP:
4752946
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.46875357G>C , CM000673.2:g.46875357G>C GRCh38
NC_000011.9:g.46896908G>C , CM000673.1:g.46896908G>C GRCh37
NC_000011.8:g.46853484G>C NCBI36
NG_021394.1:g.48266C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000378623.6:c.3925+99C>G MANE Select ENSP00000367888.1:n.3925+99C>G
ENST00000378623.5:c.3925+99C>G ENSP00000367888.1:n.3925+99C>G
NM_002334.3:c.3925+99C>G NP_002325.2:n.3925+99C>G
XM_011520102.1:c.4138+99C>G XP_011518404.1:n.4138+99C>G
XM_011520103.1:c.3121+99C>G XP_011518405.1:n.3121+99C>G
XM_011520104.1:c.1690+99C>G XP_011518406.1:n.1690+99C>G
XM_011520103.2:c.3121+99C>G XP_011518405.1:n.3121+99C>G
XM_011520104.2:c.1690+99C>G XP_011518406.1:n.1690+99C>G
XM_017017734.1:c.3925+99C>G XP_016873223.1:n.3925+99C>G
NM_002334.4:c.3925+99C>G MANE Select NP_002325.2:n.3925+99C>G
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