Canonical Allele Identifier: CA477155342
Gene: MFRP HGNC NCBI
C1QTNF5 HGNC NCBI

Linked Data

gnomAD v4: 11-119341647-G-A
MyVariant Identifiers: chr11:g.119212357G>A (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.119341647G>A , CM000673.2:g.119341647G>A GRCh38
NC_000011.9:g.119212357G>A , CM000673.1:g.119212357G>A GRCh37
NC_000011.8:g.118717567G>A NCBI36
NG_012235.1:g.10027C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000619721.6:c.1641C>T (MFRP) MANE Select ENSP00000481824.1:p.His547=
ENST00000360167.4:c.1287C>T (MFRP) ENSP00000353291.4:p.His429=
ENST00000449574.7:c.512C>T (MFRP)
ENST00000619721.5:c.1641C>T (MFRP) ENSP00000481824.1:p.His547=
NM_015645.4:c.-996C>T (C1QTNF5) NP_056460.1:n.-996C>T
NM_031433.3:c.1641C>T (MFRP) NP_113621.1:p.His547=
NM_031433.4:c.1641C>T (MFRP) MANE Select NP_113621.1:p.His547=
NM_015645.5:c.-996C>T (C1QTNF5) NP_056460.1:n.-996C>T
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