Canonical Allele Identifier: CA10056023
Gene: LRRC3 HGNC NCBI

Linked Data

ClinVar Variation Id: 2596085
ClinVar RCV Id: RCV004338262
dbSNP Id: rs370394884
ExAC: 21:45876685 G / A
gnomAD v2: 21-45876685-G-A
gnomAD v3: 21-44456802-G-A
gnomAD v4: 21-44456802-G-A
MyVariant Identifiers: chr21:g.45876685G>A (hg19) chr21:g.44456802G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.44456802G>A , CM000683.2:g.44456802G>A GRCh38
NC_000021.8:g.45876685G>A , CM000683.1:g.45876685G>A GRCh37
NC_000021.7:g.44701113G>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000291592.6:c.158G>A MANE Select ENSP00000291592.4:p.Arg53Gln
ENST00000291592.5:c.158G>A ENSP00000291592.4:p.Arg53Gln
NM_030891.4:c.158G>A NP_112153.1:p.Arg53Gln
NM_030891.5:c.158G>A NP_112153.1:p.Arg53Gln
NM_030891.6:c.158G>A MANE Select NP_112153.1:p.Arg53Gln
Search 100 bp 5'
Search 100 bp 3'