Canonical Allele Identifier: CA410440097

Gene: LRRC3

Linked Data

• dbSNP Id: rs1480395712
• gnomAD v2: 21-45876549-C-T
• gnomAD v3: 21-44456666-C-T
• gnomAD v4: 21-44456666-C-T
• MyVariant Identifiers: chr21:g.45876549C>T (hg19) ; chr21:g.44456666C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.44456666C>T , CM000683.2:g.44456666C>T	GRCh38
NC_000021.8:g.45876549C>T , CM000683.1:g.45876549C>T	GRCh37
NC_000021.7:g.44700977C>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000291592.6:c.22C>T MANE Select	ENSP00000291592.4:p.Arg8Cys
ENST00000291592.5:c.22C>T	ENSP00000291592.4:p.Arg8Cys
NM_030891.4:c.22C>T	NP_112153.1:p.Arg8Cys
NM_030891.5:c.22C>T	NP_112153.1:p.Arg8Cys
NM_030891.6:c.22C>T MANE Select	NP_112153.1:p.Arg8Cys