Canonical Allele Identifier: CA5927353

Gene: FIBIN

Linked Data

• dbSNP Id: rs138273386
• ExAC: 11:27016360 G / A
• gnomAD v2: 11-27016360-G-A
• gnomAD v3: 11-26994813-G-A
• gnomAD v4: 11-26994813-G-A
• MyVariant Identifiers: chr11:g.27016360G>A (hg19) ; chr11:g.26994813G>A (hg38)

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