Canonical Allele Identifier: CA440295716
Gene: IBSP HGNC NCBI

Linked Data

dbSNP Id: rs1267205703
gnomAD v3: 4-87811463-G-A
gnomAD v4: 4-87811463-G-A
COSMIC: COSM5666683
MyVariant Identifiers: chr4:g.88732615G>A (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.87811463G>A , CM000666.2:g.87811463G>A GRCh38
NC_000004.11:g.88732615G>A , CM000666.1:g.88732615G>A GRCh37
NC_000004.10:g.88951639G>A NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000226284.7:c.507G>A MANE Select ENSP00000226284.5:p.Val169=
ENST00000226284.6:c.507G>A ENSP00000226284.5:p.Val169=
NM_004967.3:c.507G>A NP_004958.2:p.Val169=
NM_004967.4:c.507G>A MANE Select NP_004958.2:p.Val169=
Search 100 bp 5'
Search 100 bp 3'