Canonical Allele Identifier: CA3002403
Gene: IBSP HGNC NCBI

Linked Data

dbSNP Id: rs766839715
ExAC: 4:88732609 A / C
gnomAD v2: 4-88732609-A-C
gnomAD v3: 4-87811457-A-C
gnomAD v4: 4-87811457-A-C
MyVariant Identifiers: chr4:g.88732609A>C (hg19) chr4:g.87811457A>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.87811457A>C , CM000666.2:g.87811457A>C GRCh38
NC_000004.11:g.88732609A>C , CM000666.1:g.88732609A>C GRCh37
NC_000004.10:g.88951633A>C NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000226284.7:c.501A>C MANE Select ENSP00000226284.5:p.Ala167=
ENST00000226284.6:c.501A>C ENSP00000226284.5:p.Ala167=
NM_004967.3:c.501A>C NP_004958.2:p.Ala167=
NM_004967.4:c.501A>C MANE Select NP_004958.2:p.Ala167=
Search 100 bp 5'
Search 100 bp 3'