Canonical Allele Identifier: CA382968007
Gene: C1QTNF5 HGNC NCBI
MFRP HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.119339401A>C , CM000673.2:g.119339401A>C GRCh38
NC_000011.9:g.119210111A>C , CM000673.1:g.119210111A>C GRCh37
NC_000011.8:g.118715321A>C NCBI36
NG_012235.1:g.12273T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000528368.3:c.662T>G (C1QTNF5) MANE Select ENSP00000431140.1:p.Ile221Ser
ENST00000619721.6:c.*1558T>G (MFRP) MANE Select ENSP00000481824.1:n.*1558T>G
ENST00000525657.2:n.552T>G (C1QTNF5)
ENST00000528368.2:c.662T>G (C1QTNF5) ENSP00000431140.1:p.Ile221Ser
ENST00000530681.2:c.662T>G (C1QTNF5) ENSP00000456533.2:p.Ile221Ser
ENST00000619721.5:c.*1558T>G (MFRP) ENSP00000481824.1:n.*1558T>G
NM_001278431.1:c.662T>G (C1QTNF5) NP_001265360.1:p.Ile221Ser
NM_015645.4:c.662T>G (C1QTNF5) NP_056460.1:p.Ile221Ser
NM_031433.3:c.*1558T>G (MFRP) NP_113621.1:n.*1558T>G
NM_001278431.2:c.662T>G (C1QTNF5) MANE Select NP_001265360.1:p.Ile221Ser
NM_031433.4:c.*1558T>G (MFRP) MANE Select NP_113621.1:n.*1558T>G
NM_015645.5:c.662T>G (C1QTNF5) NP_056460.1:p.Ile221Ser