Canonical Allele Identifier: CA382971482
Gene: MFRP HGNC NCBI
C1QTNF5 HGNC NCBI

Linked Data

MyVariant Identifiers: chr11:g.119212358T>A (hg19) chr11:g.119341648T>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.119341648T>A , CM000673.2:g.119341648T>A GRCh38
NC_000011.9:g.119212358T>A , CM000673.1:g.119212358T>A GRCh37
NC_000011.8:g.118717568T>A NCBI36
NG_012235.1:g.10026A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000619721.6:c.1640A>T (MFRP) MANE Select ENSP00000481824.1:p.His547Leu
ENST00000360167.4:c.1286A>T (MFRP) ENSP00000353291.4:p.His429Leu
ENST00000449574.7:c.511A>T (MFRP)
ENST00000619721.5:c.1640A>T (MFRP) ENSP00000481824.1:p.His547Leu
NM_015645.4:c.-997A>T (C1QTNF5) NP_056460.1:n.-997A>T
NM_031433.3:c.1640A>T (MFRP) NP_113621.1:p.His547Leu
NM_031433.4:c.1640A>T (MFRP) MANE Select NP_113621.1:p.His547Leu
NM_015645.5:c.-997A>T (C1QTNF5) NP_056460.1:n.-997A>T
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