Canonical Allele Identifier: CA229673450

Gene: C1QTNF5 MFRP

Linked Data

• ClinVar Variation Id: 1956620
• ClinVar RCV Id: RCV002700980
• dbSNP Id: rs923859666
• MyVariant Identifiers: chr11:g.119210062G>A (hg19) ; chr11:g.119339352G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.119339352G>A , CM000673.2:g.119339352G>A	GRCh38
NC_000011.9:g.119210062G>A , CM000673.1:g.119210062G>A	GRCh37
NC_000011.8:g.118715272G>A	NCBI36
NG_012235.1:g.12322C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000528368.3:c.711C>T (C1QTNF5) MANE Select	ENSP00000431140.1:p.His237=
ENST00000619721.6:c.*1607C>T (MFRP) MANE Select	ENSP00000481824.1:n.*1607C>T
ENST00000528368.2:c.711C>T (C1QTNF5)	ENSP00000431140.1:p.His237=
ENST00000530681.2:c.711C>T (C1QTNF5)	ENSP00000456533.2:p.His237=
ENST00000619721.5:c.*1607C>T (MFRP)	ENSP00000481824.1:n.*1607C>T
NM_001278431.1:c.711C>T (C1QTNF5)	NP_001265360.1:p.His237=
NM_015645.4:c.711C>T (C1QTNF5)	NP_056460.1:p.His237=
NM_031433.3:c.*1607C>T (MFRP)	NP_113621.1:n.*1607C>T
NM_001278431.2:c.711C>T (C1QTNF5) MANE Select	NP_001265360.1:p.His237=
NM_031433.4:c.*1607C>T (MFRP) MANE Select	NP_113621.1:n.*1607C>T
NM_015645.5:c.711C>T (C1QTNF5)	NP_056460.1:p.His237=