Canonical Allele Identifier: CA6320391
Gene: MFRP HGNC NCBI
C1QTNF5 HGNC NCBI

Linked Data

ClinVar Variation Id: 302965
ClinVar RCV Id: RCV000288629 RCV000383217 RCV001104328
dbSNP Id: rs751729583
ExAC: 11:119215454 A / T
gnomAD v2: 11-119215454-A-T
gnomAD v3: 11-119344744-A-T
gnomAD v4: 11-119344744-A-T
MyVariant Identifiers: chr11:g.119215454A>T (hg19) chr11:g.119344744A>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.119344744A>T , CM000673.2:g.119344744A>T GRCh38
NC_000011.9:g.119215454A>T , CM000673.1:g.119215454A>T GRCh37
NC_000011.8:g.118720664A>T NCBI36
NG_012235.1:g.6930T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000619721.6:c.786T>A (MFRP) MANE Select ENSP00000481824.1:p.His262Gln
ENST00000360167.4:c.786T>A (MFRP) ENSP00000353291.4:p.His262Gln
ENST00000529147.2:n.749T>A (MFRP)
ENST00000619721.5:c.786T>A (MFRP) ENSP00000481824.1:p.His262Gln
NM_015645.4:c.-1851T>A (C1QTNF5) NP_056460.1:n.-1851T>A
NM_031433.3:c.786T>A (MFRP) NP_113621.1:p.His262Gln
NM_031433.4:c.786T>A (MFRP) MANE Select NP_113621.1:p.His262Gln
NM_015645.5:c.-1851T>A (C1QTNF5) NP_056460.1:n.-1851T>A
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