Canonical Allele Identifier: CA382971525

Gene: MFRP C1QTNF5

Linked Data

• gnomAD v4: 11-119341670-A-G
• MyVariant Identifiers: chr11:g.119212380A>G (hg19) ; chr11:g.119341670A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.119341670A>G , CM000673.2:g.119341670A>G	GRCh38
NC_000011.9:g.119212380A>G , CM000673.1:g.119212380A>G	GRCh37
NC_000011.8:g.118717590A>G	NCBI36
NG_012235.1:g.10004T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000619721.6:c.1618T>C (MFRP) MANE Select	ENSP00000481824.1:p.Ser540Pro
ENST00000360167.4:c.1264T>C (MFRP)	ENSP00000353291.4:p.Ser422Pro
ENST00000449574.7:c.489T>C (MFRP)
ENST00000619721.5:c.1618T>C (MFRP)	ENSP00000481824.1:p.Ser540Pro
NM_015645.4:c.-1019T>C (C1QTNF5)	NP_056460.1:n.-1019T>C
NM_031433.3:c.1618T>C (MFRP)	NP_113621.1:p.Ser540Pro
NM_031433.4:c.1618T>C (MFRP) MANE Select	NP_113621.1:p.Ser540Pro
NM_015645.5:c.-1019T>C (C1QTNF5)	NP_056460.1:n.-1019T>C