Canonical Allele Identifier: CA017306

Gene: C1QTNF5 MFRP

Linked Data

• ClinVar Variation Id: 2126
• ClinVar RCV Id: RCV000002208 ; RCV001074679 ; RCV001245416
• dbSNP Id: rs111033578
• gnomAD v4: 11-119339574-G-C
• MyVariant Identifiers: chr11:g.119210284G>C (hg19) ; chr11:g.119339574G>C (hg38)
• PubMed: PMID:12944416 ; PMID:25326637

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.119339574G>C , CM000673.2:g.119339574G>C	GRCh38
NC_000011.9:g.119210284G>C , CM000673.1:g.119210284G>C	GRCh37
NC_000011.8:g.118715494G>C	NCBI36
NG_012235.1:g.12100C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000528368.3:c.489C>G (C1QTNF5) MANE Select	ENSP00000431140.1:p.Ser163Arg
ENST00000619721.6:c.*1385C>G (MFRP) MANE Select	ENSP00000481824.1:n.*1385C>G
ENST00000525657.2:n.379C>G (C1QTNF5)
ENST00000528368.2:c.489C>G (C1QTNF5)	ENSP00000431140.1:p.Ser163Arg
ENST00000530681.2:c.489C>G (C1QTNF5)	ENSP00000456533.2:p.Ser163Arg
ENST00000619721.5:c.*1385C>G (MFRP)	ENSP00000481824.1:n.*1385C>G
NM_001278431.1:c.489C>G (C1QTNF5)	NP_001265360.1:p.Ser163Arg
NM_015645.4:c.489C>G (C1QTNF5)	NP_056460.1:p.Ser163Arg
NM_031433.3:c.*1385C>G (MFRP)	NP_113621.1:n.*1385C>G
NM_001278431.2:c.489C>G (C1QTNF5) MANE Select	NP_001265360.1:p.Ser163Arg
NM_031433.4:c.*1385C>G (MFRP) MANE Select	NP_113621.1:n.*1385C>G
NM_015645.5:c.489C>G (C1QTNF5)	NP_056460.1:p.Ser163Arg