Canonical Allele Identifier: CA382971810
Gene: MFRP HGNC NCBI
C1QTNF5 HGNC NCBI

Linked Data

gnomAD v4: 11-119341761-G-T
MyVariant Identifiers: chr11:g.119212471G>T (hg19) chr11:g.119341761G>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.119341761G>T , CM000673.2:g.119341761G>T GRCh38
NC_000011.9:g.119212471G>T , CM000673.1:g.119212471G>T GRCh37
NC_000011.8:g.118717681G>T NCBI36
NG_012235.1:g.9913C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000619721.6:c.1527C>A (MFRP) MANE Select ENSP00000481824.1:p.Ser509Arg
ENST00000360167.4:c.1173C>A (MFRP) ENSP00000353291.4:p.Ser391Arg
ENST00000449574.7:c.398C>A (MFRP)
ENST00000619721.5:c.1527C>A (MFRP) ENSP00000481824.1:p.Ser509Arg
NM_015645.4:c.-1110C>A (C1QTNF5) NP_056460.1:n.-1110C>A
NM_031433.3:c.1527C>A (MFRP) NP_113621.1:p.Ser509Arg
NM_031433.4:c.1527C>A (MFRP) MANE Select NP_113621.1:p.Ser509Arg
NM_015645.5:c.-1110C>A (C1QTNF5) NP_056460.1:n.-1110C>A
Search 100 bp 5'
Search 100 bp 3'