Canonical Allele Identifier: CA5970133
Gene: LRP4 HGNC NCBI

Linked Data

ClinVar Variation Id: 304886
ClinVar RCV Id: RCV000282284 RCV000550279 RCV001618532
dbSNP Id: rs72897663
ExAC: 11:46916179 T / G
gnomAD v2: 11-46916179-T-G
gnomAD v3: 11-46894628-T-G
gnomAD v4: 11-46894628-T-G
MyVariant Identifiers: chr11:g.46916179T>G (hg19) chr11:g.46894628T>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.46894628T>G , CM000673.2:g.46894628T>G GRCh38
NC_000011.9:g.46916179T>G , CM000673.1:g.46916179T>G GRCh37
NC_000011.8:g.46872755T>G NCBI36
NG_021394.1:g.28995A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000378623.6:c.1501A>C MANE Select ENSP00000367888.1:p.Asn501His
ENST00000378623.5:c.1501A>C ENSP00000367888.1:p.Asn501His
NM_002334.3:c.1501A>C NP_002325.2:p.Asn501His
XM_011520102.1:c.1714A>C XP_011518404.1:p.Asn572His
XM_011520103.1:c.697A>C XP_011518405.1:p.Asn233His
XM_011520103.2:c.697A>C XP_011518405.1:p.Asn233His
XM_017017734.1:c.1501A>C XP_016873223.1:p.Asn501His
NM_002334.4:c.1501A>C MANE Select NP_002325.2:p.Asn501His
Search 100 bp 5'
Search 100 bp 3'