Canonical Allele Identifier: CA10638022

Gene: MFRP C1QTNF5

Linked Data

• ClinVar Variation Id: 302968
• ClinVar RCV Id: RCV000297293 ; RCV000370794 ; RCV001065992
• dbSNP Id: rs886047833
• gnomAD v3: 11-119345478-C-T
• gnomAD v4: 11-119345478-C-T
• MyVariant Identifiers: chr11:g.119216188C>T (hg19) ; chr11:g.119345478C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.119345478C>T , CM000673.2:g.119345478C>T	GRCh38
NC_000011.9:g.119216188C>T , CM000673.1:g.119216188C>T	GRCh37
NC_000011.8:g.118721398C>T	NCBI36
NG_012235.1:g.6196G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000619721.6:c.583G>A (MFRP) MANE Select	ENSP00000481824.1:p.Ala195Thr
ENST00000360167.4:c.583G>A (MFRP)	ENSP00000353291.4:p.Ala195Thr
ENST00000529147.2:n.546G>A (MFRP)
ENST00000619721.5:c.583G>A (MFRP)	ENSP00000481824.1:p.Ala195Thr
ENST00000634542.1:c.*174G>A (MFRP)	ENSP00000488979.1:n.*174G>A
NM_015645.4:c.-2054G>A (C1QTNF5)	NP_056460.1:n.-2054G>A
NM_031433.3:c.583G>A (MFRP)	NP_113621.1:p.Ala195Thr
NM_031433.4:c.583G>A (MFRP) MANE Select	NP_113621.1:p.Ala195Thr
NM_015645.5:c.-2054G>A (C1QTNF5)	NP_056460.1:n.-2054G>A