Canonical Allele Identifier: CA2575056454
Gene: MFRP HGNC NCBI
C1QTNF5 HGNC NCBI

Linked Data

gnomAD v4: 11-119344249-C-T
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.119344249C>T , CM000673.2:g.119344249C>T GRCh38
NC_000011.9:g.119214959C>T , CM000673.1:g.119214959C>T GRCh37
NC_000011.8:g.118720169C>T NCBI36
NG_012235.1:g.7425G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000619721.6:c.975+66G>A (MFRP) MANE Select ENSP00000481824.1:n.975+66G>A
ENST00000360167.4:c.898+383G>A (MFRP) ENSP00000353291.4:n.898+383G>A
ENST00000619721.5:c.975+66G>A (MFRP) ENSP00000481824.1:n.975+66G>A
NM_015645.4:c.-1662+66G>A (C1QTNF5) NP_056460.1:n.-1662+66G>A
NM_031433.3:c.975+66G>A (MFRP) NP_113621.1:n.975+66G>A
NM_031433.4:c.975+66G>A (MFRP) MANE Select NP_113621.1:n.975+66G>A
NM_015645.5:c.-1662+66G>A (C1QTNF5) NP_056460.1:n.-1662+66G>A
Search 100 bp 5'
Search 100 bp 3'