Canonical Allele Identifier: CA477377434

Gene: C1QTNF5 MFRP

Linked Data

• ClinVar Variation Id: 1992430
• ClinVar RCV Id: RCV002795950
• dbSNP Id: rs1272859869
• MyVariant Identifiers: chr11:g.119210176C>T (hg19) ; chr11:g.119339466C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.119339466C>T , CM000673.2:g.119339466C>T	GRCh38
NC_000011.9:g.119210176C>T , CM000673.1:g.119210176C>T	GRCh37
NC_000011.8:g.118715386C>T	NCBI36
NG_012235.1:g.12208G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000528368.3:c.597G>A (C1QTNF5) MANE Select	ENSP00000431140.1:p.Leu199=
ENST00000619721.6:c.*1493G>A (MFRP) MANE Select	ENSP00000481824.1:n.*1493G>A
ENST00000525657.2:n.487G>A (C1QTNF5)
ENST00000528368.2:c.597G>A (C1QTNF5)	ENSP00000431140.1:p.Leu199=
ENST00000530681.2:c.597G>A (C1QTNF5)	ENSP00000456533.2:p.Leu199=
ENST00000619721.5:c.*1493G>A (MFRP)	ENSP00000481824.1:n.*1493G>A
NM_001278431.1:c.597G>A (C1QTNF5)	NP_001265360.1:p.Leu199=
NM_015645.4:c.597G>A (C1QTNF5)	NP_056460.1:p.Leu199=
NM_031433.3:c.*1493G>A (MFRP)	NP_113621.1:n.*1493G>A
NM_001278431.2:c.597G>A (C1QTNF5) MANE Select	NP_001265360.1:p.Leu199=
NM_031433.4:c.*1493G>A (MFRP) MANE Select	NP_113621.1:n.*1493G>A
NM_015645.5:c.597G>A (C1QTNF5)	NP_056460.1:p.Leu199=