Canonical Allele Identifier: CA477377914
Gene: MFRP HGNC NCBI
C1QTNF5 HGNC NCBI

Linked Data

MyVariant Identifiers: chr11:g.119216258C>G (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.119345548C>G , CM000673.2:g.119345548C>G GRCh38
NC_000011.9:g.119216258C>G , CM000673.1:g.119216258C>G GRCh37
NC_000011.8:g.118721468C>G NCBI36
NG_012235.1:g.6126G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000619721.6:c.513G>C (MFRP) MANE Select ENSP00000481824.1:p.Val171=
ENST00000360167.4:c.513G>C (MFRP) ENSP00000353291.4:p.Val171=
ENST00000529147.2:n.476G>C (MFRP)
ENST00000619721.5:c.513G>C (MFRP) ENSP00000481824.1:p.Val171=
ENST00000634542.1:c.*104G>C (MFRP) ENSP00000488979.1:n.*104G>C
NM_015645.4:c.-2124G>C (C1QTNF5) NP_056460.1:n.-2124G>C
NM_031433.3:c.513G>C (MFRP) NP_113621.1:p.Val171=
NM_031433.4:c.513G>C (MFRP) MANE Select NP_113621.1:p.Val171=
NM_015645.5:c.-2124G>C (C1QTNF5) NP_056460.1:n.-2124G>C
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