Canonical Allele Identifier: CA6320050
Gene: MFRP HGNC NCBI
C1QTNF5 HGNC NCBI

Linked Data

ClinVar Variation Id: 1149757
ClinVar RCV Id: RCV001490103
dbSNP Id: rs764371749
ExAC: 11:119212372 G / A
gnomAD v2: 11-119212372-G-A
gnomAD v4: 11-119341662-G-A
MyVariant Identifiers: chr11:g.119212372G>A (hg19) chr11:g.119212372_119212376delinsACAGA (hg19) chr11:g.119341662G>A (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.119341662G>A , CM000673.2:g.119341662G>A GRCh38
NC_000011.9:g.119212372G>A , CM000673.1:g.119212372G>A GRCh37
NC_000011.8:g.118717582G>A NCBI36
NG_012235.1:g.10012C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000619721.6:c.1626C>T (MFRP) MANE Select ENSP00000481824.1:p.Cys542=
ENST00000360167.4:c.1272C>T (MFRP) ENSP00000353291.4:p.Cys424=
ENST00000449574.7:c.497C>T (MFRP)
ENST00000619721.5:c.1626C>T (MFRP) ENSP00000481824.1:p.Cys542=
NM_015645.4:c.-1011C>T (C1QTNF5) NP_056460.1:n.-1011C>T
NM_031433.3:c.1626C>T (MFRP) NP_113621.1:p.Cys542=
NM_031433.4:c.1626C>T (MFRP) MANE Select NP_113621.1:p.Cys542=
NM_015645.5:c.-1011C>T (C1QTNF5) NP_056460.1:n.-1011C>T
Search 100 bp 5'
Search 100 bp 3'