Canonical Allele Identifier: CA553085737
Gene: IBSP HGNC NCBI

Linked Data

dbSNP Id: rs1448577394
gnomAD v2: 4-88732507-C-G
gnomAD v3: 4-87811355-C-G
gnomAD v4: 4-87811355-C-G
MyVariant Identifiers: chr4:g.88732507C>G (hg19) chr4:g.87811355C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.87811355C>G , CM000666.2:g.87811355C>G GRCh38
NC_000004.11:g.88732507C>G , CM000666.1:g.88732507C>G GRCh37
NC_000004.10:g.88951531C>G NCBI36

Transcript Alleles

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