Canonical Allele Identifier: CA3002378
Gene: IBSP HGNC NCBI

Linked Data

dbSNP Id: rs769610765
ExAC: 4:88732495 T / C
gnomAD v2: 4-88732495-T-C
gnomAD v3: 4-87811343-T-C
gnomAD v4: 4-87811343-T-C
MyVariant Identifiers: chr4:g.88732495T>C (hg19) chr4:g.87811343T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.87811343T>C , CM000666.2:g.87811343T>C GRCh38
NC_000004.11:g.88732495T>C , CM000666.1:g.88732495T>C GRCh37
NC_000004.10:g.88951519T>C NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000226284.7:c.406-19T>C MANE Select ENSP00000226284.5:n.406-19T>C
ENST00000226284.6:c.406-19T>C ENSP00000226284.5:n.406-19T>C
NM_004967.3:c.406-19T>C NP_004958.2:n.406-19T>C
NM_004967.4:c.406-19T>C MANE Select NP_004958.2:n.406-19T>C
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