Canonical Allele Identifier: CA382971623

Gene: MFRP C1QTNF5

Linked Data

• dbSNP Id: rs1352244040
• gnomAD v2: 11-119212416-A-G
• gnomAD v4: 11-119341706-A-G
• MyVariant Identifiers: chr11:g.119212416A>G (hg19) ; chr11:g.119341706A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.119341706A>G , CM000673.2:g.119341706A>G	GRCh38
NC_000011.9:g.119212416A>G , CM000673.1:g.119212416A>G	GRCh37
NC_000011.8:g.118717626A>G	NCBI36
NG_012235.1:g.9968T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000619721.6:c.1582T>C (MFRP) MANE Select	ENSP00000481824.1:p.Cys528Arg
ENST00000360167.4:c.1228T>C (MFRP)	ENSP00000353291.4:p.Cys410Arg
ENST00000449574.7:c.453T>C (MFRP)
ENST00000619721.5:c.1582T>C (MFRP)	ENSP00000481824.1:p.Cys528Arg
NM_015645.4:c.-1055T>C (C1QTNF5)	NP_056460.1:n.-1055T>C
NM_031433.3:c.1582T>C (MFRP)	NP_113621.1:p.Cys528Arg
NM_031433.4:c.1582T>C (MFRP) MANE Select	NP_113621.1:p.Cys528Arg
NM_015645.5:c.-1055T>C (C1QTNF5)	NP_056460.1:n.-1055T>C