Canonical Allele Identifier: CA382971316
Gene: MFRP HGNC NCBI
C1QTNF5 HGNC NCBI

Linked Data

MyVariant Identifiers: chr11:g.119212281G>C (hg19) chr11:g.119341571G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.119341571G>C , CM000673.2:g.119341571G>C GRCh38
NC_000011.9:g.119212281G>C , CM000673.1:g.119212281G>C GRCh37
NC_000011.8:g.118717491G>C NCBI36
NG_012235.1:g.10103C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000619721.6:c.1717C>G (MFRP) MANE Select ENSP00000481824.1:p.Leu573Val
ENST00000360167.4:c.1363C>G (MFRP) ENSP00000353291.4:p.Leu455Val
ENST00000619721.5:c.1717C>G (MFRP) ENSP00000481824.1:p.Leu573Val
NM_015645.4:c.-920C>G (C1QTNF5) NP_056460.1:n.-920C>G
NM_031433.3:c.1717C>G (MFRP) NP_113621.1:p.Leu573Val
NM_031433.4:c.1717C>G (MFRP) MANE Select NP_113621.1:p.Leu573Val
NM_015645.5:c.-920C>G (C1QTNF5) NP_056460.1:n.-920C>G
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