Canonical Allele Identifier: CA10055998
Gene: LRRC3 HGNC NCBI

Linked Data

ClinVar Variation Id: 2205308
ClinVar RCV Id: RCV004073831
dbSNP Id: rs751445424
ExAC: 21:45876576 C / T
gnomAD v2: 21-45876576-C-T
gnomAD v3: 21-44456693-C-T
gnomAD v4: 21-44456693-C-T
MyVariant Identifiers: chr21:g.45876576C>T (hg19) chr21:g.44456693C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.44456693C>T , CM000683.2:g.44456693C>T GRCh38
NC_000021.8:g.45876576C>T , CM000683.1:g.45876576C>T GRCh37
NC_000021.7:g.44701004C>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000291592.6:c.49C>T MANE Select ENSP00000291592.4:p.Arg17Trp
ENST00000291592.5:c.49C>T ENSP00000291592.4:p.Arg17Trp
NM_030891.4:c.49C>T NP_112153.1:p.Arg17Trp
NM_030891.5:c.49C>T NP_112153.1:p.Arg17Trp
NM_030891.6:c.49C>T MANE Select NP_112153.1:p.Arg17Trp
Search 100 bp 5'
Search 100 bp 3'