Canonical Allele Identifier: CA477377377

Gene: C1QTNF5 MFRP

Linked Data

• gnomAD v4: 11-119339436-C-A
• MyVariant Identifiers: chr11:g.119210146C>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.119339436C>A , CM000673.2:g.119339436C>A	GRCh38
NC_000011.9:g.119210146C>A , CM000673.1:g.119210146C>A	GRCh37
NC_000011.8:g.118715356C>A	NCBI36
NG_012235.1:g.12238G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000528368.3:c.627G>T (C1QTNF5) MANE Select	ENSP00000431140.1:p.Val209=
ENST00000619721.6:c.*1523G>T (MFRP) MANE Select	ENSP00000481824.1:n.*1523G>T
ENST00000525657.2:n.517G>T (C1QTNF5)
ENST00000528368.2:c.627G>T (C1QTNF5)	ENSP00000431140.1:p.Val209=
ENST00000530681.2:c.627G>T (C1QTNF5)	ENSP00000456533.2:p.Val209=
ENST00000619721.5:c.*1523G>T (MFRP)	ENSP00000481824.1:n.*1523G>T
NM_001278431.1:c.627G>T (C1QTNF5)	NP_001265360.1:p.Val209=
NM_015645.4:c.627G>T (C1QTNF5)	NP_056460.1:p.Val209=
NM_031433.3:c.*1523G>T (MFRP)	NP_113621.1:n.*1523G>T
NM_001278431.2:c.627G>T (C1QTNF5) MANE Select	NP_001265360.1:p.Val209=
NM_031433.4:c.*1523G>T (MFRP) MANE Select	NP_113621.1:n.*1523G>T
NM_015645.5:c.627G>T (C1QTNF5)	NP_056460.1:p.Val209=