Canonical Allele Identifier: CA382971596
Gene: MFRP HGNC NCBI
C1QTNF5 HGNC NCBI

Linked Data

MyVariant Identifiers: chr11:g.119212409G>T (hg19) chr11:g.119341699G>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.119341699G>T , CM000673.2:g.119341699G>T GRCh38
NC_000011.9:g.119212409G>T , CM000673.1:g.119212409G>T GRCh37
NC_000011.8:g.118717619G>T NCBI36
NG_012235.1:g.9975C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000619721.6:c.1589C>A (MFRP) MANE Select ENSP00000481824.1:p.Pro530Gln
ENST00000360167.4:c.1235C>A (MFRP) ENSP00000353291.4:p.Pro412Gln
ENST00000449574.7:c.460C>A (MFRP)
ENST00000619721.5:c.1589C>A (MFRP) ENSP00000481824.1:p.Pro530Gln
NM_015645.4:c.-1048C>A (C1QTNF5) NP_056460.1:n.-1048C>A
NM_031433.3:c.1589C>A (MFRP) NP_113621.1:p.Pro530Gln
NM_031433.4:c.1589C>A (MFRP) MANE Select NP_113621.1:p.Pro530Gln
NM_015645.5:c.-1048C>A (C1QTNF5) NP_056460.1:n.-1048C>A
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