Canonical Allele Identifier: CA477378037

Gene: MFRP C1QTNF5

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.119345858G>C , CM000673.2:g.119345858G>C	GRCh38
NC_000011.9:g.119216568G>C , CM000673.1:g.119216568G>C	GRCh37
NC_000011.8:g.118721778G>C	NCBI36
NG_012235.1:g.5816C>G

Transcript Alleles

HGVS	Amino-acid Change
NM_031433.4:c.342C>G (MFRP) MANE Select	NP_113621.1:p.Thr114=
ENST00000619721.6:c.342C>G (MFRP) MANE Select	ENSP00000481824.1:p.Thr114=
NM_015645.4:c.-2295C>G (C1QTNF5)	NP_056460.1:n.-2295C>G
NM_015645.5:c.-2295C>G (C1QTNF5)	NP_056460.1:n.-2295C>G
NM_031433.3:c.342C>G (MFRP)	NP_113621.1:p.Thr114=
ENST00000360167.4:c.342C>G (MFRP)	ENSP00000353291.4:p.Thr114=
ENST00000526059.1:n.500C>G (MFRP)
ENST00000529147.2:n.305C>G (MFRP)
ENST00000619721.5:c.342C>G (MFRP)	ENSP00000481824.1:p.Thr114=
ENST00000634542.1:c.239C>G (MFRP)	ENSP00000488979.1:p.Pro80Arg