Canonical Allele Identifier: CA6320063

Gene: MFRP C1QTNF5

Linked Data

• ClinVar Variation Id: 497432
• ClinVar RCV Id: RCV000595814 ; RCV001226225 ; RCV002532372
• dbSNP Id: rs368172459
• ExAC: 11:119212456 C / G
• gnomAD v2: 11-119212456-C-G
• gnomAD v3: 11-119341746-C-G
• gnomAD v4: 11-119341746-C-G
• MyVariant Identifiers: chr11:g.119212456C>G (hg19) ; chr11:g.119341746C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.119341746C>G , CM000673.2:g.119341746C>G	GRCh38
NC_000011.9:g.119212456C>G , CM000673.1:g.119212456C>G	GRCh37
NC_000011.8:g.118717666C>G	NCBI36
NG_012235.1:g.9928G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000619721.6:c.1542G>C (MFRP) MANE Select	ENSP00000481824.1:p.Gln514His
ENST00000360167.4:c.1188G>C (MFRP)	ENSP00000353291.4:p.Gln396His
ENST00000449574.7:c.413G>C (MFRP)
ENST00000619721.5:c.1542G>C (MFRP)	ENSP00000481824.1:p.Gln514His
NM_015645.4:c.-1095G>C (C1QTNF5)	NP_056460.1:n.-1095G>C
NM_031433.3:c.1542G>C (MFRP)	NP_113621.1:p.Gln514His
NM_031433.4:c.1542G>C (MFRP) MANE Select	NP_113621.1:p.Gln514His
NM_015645.5:c.-1095G>C (C1QTNF5)	NP_056460.1:n.-1095G>C