Canonical Allele Identifier: CA6320745

Gene: MFRP C1QTNF5

Linked Data

• ClinVar Variation Id: 302982
• ClinVar RCV Id: RCV000347276 ; RCV000400633
• dbSNP Id: rs883247
• ExAC: 11:119217254 C / T
• gnomAD v2: 11-119217254-C-T
• gnomAD v3: 11-119346544-C-T
• gnomAD v4: 11-119346544-C-T
• MyVariant Identifiers: chr11:g.119217254C>T (hg19) ; chr11:g.119346544C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.119346544C>T , CM000673.2:g.119346544C>T	GRCh38
NC_000011.9:g.119217254C>T , CM000673.1:g.119217254C>T	GRCh37
NC_000011.8:g.118722464C>T	NCBI36
NG_012235.1:g.5130G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000619721.6:c.-31G>A (MFRP) MANE Select	ENSP00000481824.1:n.-31G>A
ENST00000360167.4:c.-31G>A (MFRP)	ENSP00000353291.4:n.-31G>A
ENST00000526059.1:n.74G>A (MFRP)
ENST00000619721.5:c.-31G>A (MFRP)	ENSP00000481824.1:n.-31G>A
ENST00000634542.1:c.-31G>A (MFRP)	ENSP00000488979.1:n.-31G>A
NM_015645.4:c.-2667G>A (C1QTNF5)	NP_056460.1:n.-2667G>A
NM_031433.3:c.-31G>A (MFRP)	NP_113621.1:n.-31G>A
NM_031433.4:c.-31G>A (MFRP) MANE Select	NP_113621.1:n.-31G>A
NM_015645.5:c.-2667G>A (C1QTNF5)	NP_056460.1:n.-2667G>A