Canonical Allele Identifier: CA5969530
Gene: LRP4 HGNC NCBI
MyVariant.info:
GRCh38 chr11:g.46875883T>C
GRCh37 chr11:g.46897434T>C
Revel Score:
ENST00000378623 (MANE Select) 0.354
gnomAD v2:
11:46897434 T / C
gnomAD v3:
11:46875883 T / C
gnomAD v4:
chr11-46875883-T-C
Joint Max Group AF 0.00179507 (NFE)
Genomes Max Group AF 0.00125045 (NFE)
Exomes Max Group AF 0.00181586 (NFE)
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.46875883T>C , CM000673.2:g.46875883T>C GRCh38
NC_000011.9:g.46897434T>C , CM000673.1:g.46897434T>C GRCh37
NC_000011.8:g.46854010T>C NCBI36
NG_021394.1:g.47740A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000378623.6:c.3620A>G MANE Select ENSP00000367888.1:p.Asn1207Ser
ENST00000378623.5:c.3620A>G ENSP00000367888.1:p.Asn1207Ser
NM_002334.3:c.3620A>G NP_002325.2:p.Asn1207Ser
XM_011520102.1:c.3833A>G XP_011518404.1:p.Asn1278Ser
XM_011520103.1:c.2816A>G XP_011518405.1:p.Asn939Ser
XM_011520104.1:c.1385A>G XP_011518406.1:p.Asn462Ser
XM_011520103.2:c.2816A>G XP_011518405.1:p.Asn939Ser
XM_011520104.2:c.1385A>G XP_011518406.1:p.Asn462Ser
XM_017017734.1:c.3620A>G XP_016873223.1:p.Asn1207Ser
NM_002334.4:c.3620A>G MANE Select NP_002325.2:p.Asn1207Ser
Search 100 bp 5'
Search 100 bp 3'