Canonical Allele Identifier: CA3002428
Gene: IBSP HGNC NCBI
COSMIC:
COSM3760819 (not active)
MyVariant.info:
GRCh38 chr4:g.87811540G>A
GRCh37 chr4:g.88732692G>A
Revel Score:
ENST00000226284 (MANE Select) 0.086
gnomAD v2:
4:88732692 G / A
gnomAD v3:
4:87811540 G / A
gnomAD v4:
chr4-87811540-G-A
Joint Max Group AF 0.32405518 (SAS)
Genomes Max Group AF 0.31279923 (NFE)
Exomes Max Group AF 0.32403333 (SAS)
dbSNP:
1054627
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.87811540G>A , CM000666.2:g.87811540G>A GRCh38
NC_000004.11:g.88732692G>A , CM000666.1:g.88732692G>A GRCh37
NC_000004.10:g.88951716G>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000226284.7:c.584G>A MANE Select ENSP00000226284.5:p.Gly195Glu
ENST00000226284.6:c.584G>A ENSP00000226284.5:p.Gly195Glu
NM_004967.3:c.584G>A NP_004958.2:p.Gly195Glu
NM_004967.4:c.584G>A MANE Select NP_004958.2:p.Gly195Glu
Search 100 bp 5'
Search 100 bp 3'