Canonical Allele Identifier: CA2616403925
Gene: MFRP HGNC NCBI
C1QTNF5 HGNC NCBI

Linked Data

gnomAD v4: 11-119341444-G-T
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.119341444G>T , CM000673.2:g.119341444G>T GRCh38
NC_000011.9:g.119212154G>T , CM000673.1:g.119212154G>T GRCh37
NC_000011.8:g.118717364G>T NCBI36
NG_012235.1:g.10230C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000619721.6:c.*104C>A (MFRP) MANE Select ENSP00000481824.1:n.*104C>A
ENST00000360167.4:c.*104C>A (MFRP) ENSP00000353291.4:n.*104C>A
ENST00000619721.5:c.*104C>A (MFRP) ENSP00000481824.1:n.*104C>A
NM_015645.4:c.-793C>A (C1QTNF5) NP_056460.1:n.-793C>A
NM_031433.3:c.*104C>A (MFRP) NP_113621.1:n.*104C>A
NM_031433.4:c.*104C>A (MFRP) MANE Select NP_113621.1:n.*104C>A
NM_015645.5:c.-793C>A (C1QTNF5) NP_056460.1:n.-793C>A
Search 100 bp 5'
Search 100 bp 3'