Canonical Allele Identifier: CA382976062
Gene: MFRP HGNC NCBI
C1QTNF5 HGNC NCBI

Linked Data

MyVariant Identifiers: chr11:g.119215062G>C (hg19) chr11:g.119344352G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.119344352G>C , CM000673.2:g.119344352G>C GRCh38
NC_000011.9:g.119215062G>C , CM000673.1:g.119215062G>C GRCh37
NC_000011.8:g.118720272G>C NCBI36
NG_012235.1:g.7322C>G

Transcript Alleles

HGVS Amino-acid change
ENST00000619721.6:c.938C>G (MFRP) MANE Select ENSP00000481824.1:p.Ser313Cys
ENST00000360167.4:c.898+280C>G (MFRP) ENSP00000353291.4:n.898+280C>G
ENST00000619721.5:c.938C>G (MFRP) ENSP00000481824.1:p.Ser313Cys
NM_015645.4:c.-1699C>G (C1QTNF5) NP_056460.1:n.-1699C>G
NM_031433.3:c.938C>G (MFRP) NP_113621.1:p.Ser313Cys
NM_031433.4:c.938C>G (MFRP) MANE Select NP_113621.1:p.Ser313Cys
NM_015645.5:c.-1699C>G (C1QTNF5) NP_056460.1:n.-1699C>G
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