Canonical Allele Identifier: CA10638007

Gene: MFRP C1QTNF5

Linked Data

• ClinVar Variation Id: 302940
• ClinVar RCV Id: RCV000260608 ; RCV000371130 ; RCV001106804
• dbSNP Id: rs886047824
• gnomAD v2: 11-119211606-C-T
• gnomAD v3: 11-119340896-C-T
• gnomAD v4: 11-119340896-C-T
• MyVariant Identifiers: chr11:g.119211606C>T (hg19) ; chr11:g.119340896C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.119340896C>T , CM000673.2:g.119340896C>T	GRCh38
NC_000011.9:g.119211606C>T , CM000673.1:g.119211606C>T	GRCh37
NC_000011.8:g.118716816C>T	NCBI36
NG_012235.1:g.10778G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000619721.6:c.*652G>A (MFRP) MANE Select	ENSP00000481824.1:n.*652G>A
ENST00000619721.5:c.*652G>A (MFRP)	ENSP00000481824.1:n.*652G>A
ENST00000634633.1:c.-245G>A (C1QTNF5)	ENSP00000489201.1:n.-245G>A
NM_015645.4:c.-245G>A (C1QTNF5)	NP_056460.1:n.-245G>A
NM_031433.3:c.*652G>A (MFRP)	NP_113621.1:n.*652G>A
NM_031433.4:c.*652G>A (MFRP) MANE Select	NP_113621.1:n.*652G>A
NM_015645.5:c.-245G>A (C1QTNF5)	NP_056460.1:n.-245G>A