Canonical Allele Identifier: CA382978286

Gene: MFRP C1QTNF5

Linked Data

• MyVariant Identifiers: chr11:g.119216248G>C (hg19) ; chr11:g.119345538G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.119345538G>C , CM000673.2:g.119345538G>C	GRCh38
NC_000011.9:g.119216248G>C , CM000673.1:g.119216248G>C	GRCh37
NC_000011.8:g.118721458G>C	NCBI36
NG_012235.1:g.6136C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000619721.6:c.523C>G (MFRP) MANE Select	ENSP00000481824.1:p.Gln175Glu
ENST00000360167.4:c.523C>G (MFRP)	ENSP00000353291.4:p.Gln175Glu
ENST00000529147.2:n.486C>G (MFRP)
ENST00000619721.5:c.523C>G (MFRP)	ENSP00000481824.1:p.Gln175Glu
ENST00000634542.1:c.*114C>G (MFRP)	ENSP00000488979.1:n.*114C>G
NM_015645.4:c.-2114C>G (C1QTNF5)	NP_056460.1:n.-2114C>G
NM_031433.3:c.523C>G (MFRP)	NP_113621.1:p.Gln175Glu
NM_031433.4:c.523C>G (MFRP) MANE Select	NP_113621.1:p.Gln175Glu
NM_015645.5:c.-2114C>G (C1QTNF5)	NP_056460.1:n.-2114C>G