Canonical Allele Identifier: CA382971420
Gene: MFRP HGNC NCBI
C1QTNF5 HGNC NCBI

Linked Data

MyVariant Identifiers: chr11:g.119212329C>A (hg19) chr11:g.119341619C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.119341619C>A , CM000673.2:g.119341619C>A GRCh38
NC_000011.9:g.119212329C>A , CM000673.1:g.119212329C>A GRCh37
NC_000011.8:g.118717539C>A NCBI36
NG_012235.1:g.10055G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000619721.6:c.1669G>T (MFRP) MANE Select ENSP00000481824.1:p.Gly557Cys
ENST00000360167.4:c.1315G>T (MFRP) ENSP00000353291.4:p.Gly439Cys
ENST00000449574.7:c.540G>T (MFRP)
ENST00000619721.5:c.1669G>T (MFRP) ENSP00000481824.1:p.Gly557Cys
NM_015645.4:c.-968G>T (C1QTNF5) NP_056460.1:n.-968G>T
NM_031433.3:c.1669G>T (MFRP) NP_113621.1:p.Gly557Cys
NM_031433.4:c.1669G>T (MFRP) MANE Select NP_113621.1:p.Gly557Cys
NM_015645.5:c.-968G>T (C1QTNF5) NP_056460.1:n.-968G>T
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