Canonical Allele Identifier: CA382971389
Gene: MFRP HGNC NCBI
C1QTNF5 HGNC NCBI

Linked Data

MyVariant Identifiers: chr11:g.119212314A>G (hg19) chr11:g.119341604A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.119341604A>G , CM000673.2:g.119341604A>G GRCh38
NC_000011.9:g.119212314A>G , CM000673.1:g.119212314A>G GRCh37
NC_000011.8:g.118717524A>G NCBI36
NG_012235.1:g.10070T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000619721.6:c.1684T>C (MFRP) MANE Select ENSP00000481824.1:p.Phe562Leu
ENST00000360167.4:c.1330T>C (MFRP) ENSP00000353291.4:p.Phe444Leu
ENST00000449574.7:c.555T>C (MFRP)
ENST00000619721.5:c.1684T>C (MFRP) ENSP00000481824.1:p.Phe562Leu
NM_015645.4:c.-953T>C (C1QTNF5) NP_056460.1:n.-953T>C
NM_031433.3:c.1684T>C (MFRP) NP_113621.1:p.Phe562Leu
NM_031433.4:c.1684T>C (MFRP) MANE Select NP_113621.1:p.Phe562Leu
NM_015645.5:c.-953T>C (C1QTNF5) NP_056460.1:n.-953T>C
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