Canonical Allele Identifier: CA5970052

Gene: LRP4

Linked Data

• ClinVar Variation Id: 290762
• ClinVar RCV Id: RCV000306777 ; RCV000549519 ; RCV001107206
• dbSNP Id: rs138878258
• ExAC: 11:46911956 T / C
• gnomAD v2: 11-46911956-T-C
• gnomAD v3: 11-46890405-T-C
• gnomAD v4: 11-46890405-T-C
• COSMIC: COSM328293
• MyVariant Identifiers: chr11:g.46911956T>C (hg19) ; chr11:g.46890405T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.46890405T>C , CM000673.2:g.46890405T>C	GRCh38
NC_000011.9:g.46911956T>C , CM000673.1:g.46911956T>C	GRCh37
NC_000011.8:g.46868532T>C	NCBI36
NG_021394.1:g.33218A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378623.6:c.1787A>G MANE Select	ENSP00000367888.1:p.His596Arg
ENST00000378623.5:c.1787A>G	ENSP00000367888.1:p.His596Arg
NM_002334.3:c.1787A>G	NP_002325.2:p.His596Arg
XM_011520102.1:c.2000A>G	XP_011518404.1:p.His667Arg
XM_011520103.1:c.983A>G	XP_011518405.1:p.His328Arg
XM_011520103.2:c.983A>G	XP_011518405.1:p.His328Arg
XM_017017734.1:c.1787A>G	XP_016873223.1:p.His596Arg
NM_002334.4:c.1787A>G MANE Select	NP_002325.2:p.His596Arg