Canonical Allele Identifier: CA6319913
Gene: C1QTNF5 HGNC NCBI
MFRP HGNC NCBI

Linked Data

ClinVar Variation Id: 499754
ClinVar RCV Id: RCV000596199 RCV000883989 RCV003915714
dbSNP Id: rs369839371
ExAC: 11:119210189 G / GC
gnomAD v2: 11-119210189-G-GC
gnomAD v3: 11-119339479-G-GC
gnomAD v4: 11-119339479-G-GC
COSMIC: COSM1351866 COSM6044779
MyVariant Identifiers: chr11:g.119210190dup (hg19) chr11:g.119210190_119210191insC (hg19) chr11:g.119210189_119210190insC (hg19) chr11:g.119339480dup (hg38) chr11:g.119339479_119339480insC (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.119339487dup , CM000673.2:g.119339487dup GRCh38
NC_000011.9:g.119210197dup , CM000673.1:g.119210197dup GRCh37
NC_000011.8:g.118715407dup NCBI36
NG_012235.1:g.12194dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000528368.3:c.583dup (C1QTNF5) MANE Select ENSP00000431140.1:p.Ala195GlyfsTer8
ENST00000619721.6:c.*1479dup (MFRP) MANE Select ENSP00000481824.1:n.*1479dup
ENST00000525657.2:n.473dup (C1QTNF5)
ENST00000528368.2:c.583dup (C1QTNF5) ENSP00000431140.1:p.Ala195GlyfsTer8
ENST00000530681.2:c.583dup (C1QTNF5) ENSP00000456533.2:p.Ala195GlyfsTer8
ENST00000619721.5:c.*1479dup (MFRP) ENSP00000481824.1:n.*1479dup
NM_001278431.1:c.583dup (C1QTNF5) NP_001265360.1:p.Ala195GlyfsTer8
NM_015645.4:c.583dup (C1QTNF5) NP_056460.1:p.Ala195GlyfsTer8
NM_031433.3:c.*1479dup (MFRP) NP_113621.1:n.*1479dup
NM_001278431.2:c.583dup (C1QTNF5) MANE Select NP_001265360.1:p.Ala195GlyfsTer8
NM_031433.4:c.*1479dup (MFRP) MANE Select NP_113621.1:n.*1479dup
NM_015645.5:c.583dup (C1QTNF5) NP_056460.1:p.Ala195GlyfsTer8
Search 100 bp 5'
Search 100 bp 3'