Canonical Allele Identifier: CA6320518

Gene: MFRP C1QTNF5

Linked Data

• dbSNP Id: rs764416891
• ExAC: 11:119216255 C / A
• gnomAD v2: 11-119216255-C-A
• gnomAD v4: 11-119345545-C-A
• MyVariant Identifiers: chr11:g.119216255C>A (hg19) ; chr11:g.119345545C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.119345545C>A , CM000673.2:g.119345545C>A	GRCh38
NC_000011.9:g.119216255C>A , CM000673.1:g.119216255C>A	GRCh37
NC_000011.8:g.118721465C>A	NCBI36
NG_012235.1:g.6129G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000619721.6:c.516G>T (MFRP) MANE Select	ENSP00000481824.1:p.Trp172Cys
ENST00000360167.4:c.516G>T (MFRP)	ENSP00000353291.4:p.Trp172Cys
ENST00000529147.2:n.479G>T (MFRP)
ENST00000619721.5:c.516G>T (MFRP)	ENSP00000481824.1:p.Trp172Cys
ENST00000634542.1:c.*107G>T (MFRP)	ENSP00000488979.1:n.*107G>T
NM_015645.4:c.-2121G>T (C1QTNF5)	NP_056460.1:n.-2121G>T
NM_031433.3:c.516G>T (MFRP)	NP_113621.1:p.Trp172Cys
NM_031433.4:c.516G>T (MFRP) MANE Select	NP_113621.1:p.Trp172Cys
NM_015645.5:c.-2121G>T (C1QTNF5)	NP_056460.1:n.-2121G>T