Canonical Allele Identifier: CA382967707
Gene: C1QTNF5 HGNC NCBI
MFRP HGNC NCBI

Linked Data

gnomAD v4: 11-119339349-G-C
MyVariant Identifiers: chr11:g.119210059G>C (hg19) chr11:g.119339349G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.119339349G>C , CM000673.2:g.119339349G>C GRCh38
NC_000011.9:g.119210059G>C , CM000673.1:g.119210059G>C GRCh37
NC_000011.8:g.118715269G>C NCBI36
NG_012235.1:g.12325C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000528368.3:c.714C>G (C1QTNF5) MANE Select ENSP00000431140.1:p.Ser238Arg
ENST00000619721.6:c.*1610C>G (MFRP) MANE Select ENSP00000481824.1:n.*1610C>G
ENST00000528368.2:c.714C>G (C1QTNF5) ENSP00000431140.1:p.Ser238Arg
ENST00000530681.2:c.714C>G (C1QTNF5) ENSP00000456533.2:p.Ser238Arg
ENST00000619721.5:c.*1610C>G (MFRP) ENSP00000481824.1:n.*1610C>G
NM_001278431.1:c.714C>G (C1QTNF5) NP_001265360.1:p.Ser238Arg
NM_015645.4:c.714C>G (C1QTNF5) NP_056460.1:p.Ser238Arg
NM_031433.3:c.*1610C>G (MFRP) NP_113621.1:n.*1610C>G
NM_001278431.2:c.714C>G (C1QTNF5) MANE Select NP_001265360.1:p.Ser238Arg
NM_031433.4:c.*1610C>G (MFRP) MANE Select NP_113621.1:n.*1610C>G
NM_015645.5:c.714C>G (C1QTNF5) NP_056460.1:p.Ser238Arg
Search 100 bp 5'
Search 100 bp 3'