Canonical Allele Identifier: CA5927353
Gene: FIBIN HGNC NCBI
MyVariant.info:
GRCh38 chr11:g.26994813G>A
GRCh37 chr11:g.27016360G>A
Revel Score:
ENST00000318627 (MANE Select) 0.580
gnomAD v2:
11:27016360 G / A
gnomAD v3:
11:26994813 G / A
gnomAD v4:
chr11-26994813-G-A
Joint Max Group AF 0.00435793 (NFE)
Genomes Max Group AF 0.00411259 (NFE)
Exomes Max Group AF 0.00435116 (NFE)
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.26994813G>A , CM000673.2:g.26994813G>A GRCh38
NC_000011.9:g.27016360G>A , CM000673.1:g.27016360G>A GRCh37
NC_000011.8:g.26972936G>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000318627.4:c.287G>A MANE Select ENSP00000321962.2:p.Arg96His
ENST00000318627.3:c.287G>A ENSP00000321962.2:p.Arg96His
NM_203371.1:c.287G>A NP_976249.1:p.Arg96His
NM_203371.2:c.287G>A MANE Select NP_976249.1:p.Arg96His
Search 100 bp 5'
Search 100 bp 3'