Canonical Allele Identifier: CA382969258
Gene: C1QTNF5 HGNC NCBI
MFRP HGNC NCBI

Linked Data

ClinVar Variation Id: 1907079
ClinVar RCV Id: RCV002589222
dbSNP Id: rs1950477595

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.119339684G>T , CM000673.2:g.119339684G>T GRCh38
NC_000011.9:g.119210394G>T , CM000673.1:g.119210394G>T GRCh37
NC_000011.8:g.118715604G>T NCBI36
NG_012235.1:g.11990C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000528368.3:c.379C>A (C1QTNF5) MANE Select ENSP00000431140.1:p.Arg127Ser
ENST00000619721.6:c.*1275C>A (MFRP) MANE Select ENSP00000481824.1:n.*1275C>A
ENST00000525657.2:n.269C>A (C1QTNF5)
ENST00000528368.2:c.379C>A (C1QTNF5) ENSP00000431140.1:p.Arg127Ser
ENST00000530681.2:c.379C>A (C1QTNF5) ENSP00000456533.2:p.Arg127Ser
ENST00000619721.5:c.*1275C>A (MFRP) ENSP00000481824.1:n.*1275C>A
NM_001278431.1:c.379C>A (C1QTNF5) NP_001265360.1:p.Arg127Ser
NM_015645.4:c.379C>A (C1QTNF5) NP_056460.1:p.Arg127Ser
NM_031433.3:c.*1275C>A (MFRP) NP_113621.1:n.*1275C>A
NM_001278431.2:c.379C>A (C1QTNF5) MANE Select NP_001265360.1:p.Arg127Ser
NM_031433.4:c.*1275C>A (MFRP) MANE Select NP_113621.1:n.*1275C>A
NM_015645.5:c.379C>A (C1QTNF5) NP_056460.1:p.Arg127Ser