Canonical Allele Identifier: CA2616410003
Gene: MFRP HGNC NCBI
C1QTNF5 HGNC NCBI

Linked Data

gnomAD v4: 11-119344240-T-C
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.119344240T>C , CM000673.2:g.119344240T>C GRCh38
NC_000011.9:g.119214950T>C , CM000673.1:g.119214950T>C GRCh37
NC_000011.8:g.118720160T>C NCBI36
NG_012235.1:g.7434A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000619721.6:c.975+75A>G (MFRP) MANE Select ENSP00000481824.1:n.975+75A>G
ENST00000360167.4:c.898+392A>G (MFRP) ENSP00000353291.4:n.898+392A>G
ENST00000619721.5:c.975+75A>G (MFRP) ENSP00000481824.1:n.975+75A>G
NM_015645.4:c.-1662+75A>G (C1QTNF5) NP_056460.1:n.-1662+75A>G
NM_031433.3:c.975+75A>G (MFRP) NP_113621.1:n.975+75A>G
NM_031433.4:c.975+75A>G (MFRP) MANE Select NP_113621.1:n.975+75A>G
NM_015645.5:c.-1662+75A>G (C1QTNF5) NP_056460.1:n.-1662+75A>G
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