Canonical Allele Identifier: CA382971481
Gene: MFRP HGNC NCBI
C1QTNF5 HGNC NCBI

Linked Data

ClinVar Variation Id: 2550680
ClinVar RCV Id: RCV003258389
dbSNP Id: rs1950503638
gnomAD v4: 11-119341648-T-C
MyVariant Identifiers: chr11:g.119212358T>C (hg19) chr11:g.119341648T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.119341648T>C , CM000673.2:g.119341648T>C GRCh38
NC_000011.9:g.119212358T>C , CM000673.1:g.119212358T>C GRCh37
NC_000011.8:g.118717568T>C NCBI36
NG_012235.1:g.10026A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000619721.6:c.1640A>G (MFRP) MANE Select ENSP00000481824.1:p.His547Arg
ENST00000360167.4:c.1286A>G (MFRP) ENSP00000353291.4:p.His429Arg
ENST00000449574.7:c.511A>G (MFRP)
ENST00000619721.5:c.1640A>G (MFRP) ENSP00000481824.1:p.His547Arg
NM_015645.4:c.-997A>G (C1QTNF5) NP_056460.1:n.-997A>G
NM_031433.3:c.1640A>G (MFRP) NP_113621.1:p.His547Arg
NM_031433.4:c.1640A>G (MFRP) MANE Select NP_113621.1:p.His547Arg
NM_015645.5:c.-997A>G (C1QTNF5) NP_056460.1:n.-997A>G
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