Canonical Allele Identifier: CA2616410043
Gene: MFRP HGNC NCBI
C1QTNF5 HGNC NCBI

Linked Data

gnomAD v4: 11-119344266-G-A
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.119344266G>A , CM000673.2:g.119344266G>A GRCh38
NC_000011.9:g.119214976G>A , CM000673.1:g.119214976G>A GRCh37
NC_000011.8:g.118720186G>A NCBI36
NG_012235.1:g.7408C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000619721.6:c.975+49C>T (MFRP) MANE Select ENSP00000481824.1:n.975+49C>T
ENST00000360167.4:c.898+366C>T (MFRP) ENSP00000353291.4:n.898+366C>T
ENST00000619721.5:c.975+49C>T (MFRP) ENSP00000481824.1:n.975+49C>T
NM_015645.4:c.-1662+49C>T (C1QTNF5) NP_056460.1:n.-1662+49C>T
NM_031433.3:c.975+49C>T (MFRP) NP_113621.1:n.975+49C>T
NM_031433.4:c.975+49C>T (MFRP) MANE Select NP_113621.1:n.975+49C>T
NM_015645.5:c.-1662+49C>T (C1QTNF5) NP_056460.1:n.-1662+49C>T
Search 100 bp 5'
Search 100 bp 3'