Canonical Allele Identifier: CA382968804

Gene: C1QTNF5 MFRP

Linked Data

• ClinVar Variation Id: 1996070
• ClinVar RCV Id: RCV002801778
• MyVariant Identifiers: chr11:g.119210270A>G (hg19) ; chr11:g.119339560A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.119339560A>G , CM000673.2:g.119339560A>G	GRCh38
NC_000011.9:g.119210270A>G , CM000673.1:g.119210270A>G	GRCh37
NC_000011.8:g.118715480A>G	NCBI36
NG_012235.1:g.12114T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000528368.3:c.503T>C (C1QTNF5) MANE Select	ENSP00000431140.1:p.Leu168Pro
ENST00000619721.6:c.*1399T>C (MFRP) MANE Select	ENSP00000481824.1:n.*1399T>C
ENST00000525657.2:n.393T>C (C1QTNF5)
ENST00000528368.2:c.503T>C (C1QTNF5)	ENSP00000431140.1:p.Leu168Pro
ENST00000530681.2:c.503T>C (C1QTNF5)	ENSP00000456533.2:p.Leu168Pro
ENST00000619721.5:c.*1399T>C (MFRP)	ENSP00000481824.1:n.*1399T>C
NM_001278431.1:c.503T>C (C1QTNF5)	NP_001265360.1:p.Leu168Pro
NM_015645.4:c.503T>C (C1QTNF5)	NP_056460.1:p.Leu168Pro
NM_031433.3:c.*1399T>C (MFRP)	NP_113621.1:n.*1399T>C
NM_001278431.2:c.503T>C (C1QTNF5) MANE Select	NP_001265360.1:p.Leu168Pro
NM_031433.4:c.*1399T>C (MFRP) MANE Select	NP_113621.1:n.*1399T>C
NM_015645.5:c.503T>C (C1QTNF5)	NP_056460.1:p.Leu168Pro