Canonical Allele Identifier: CA1065112399
Gene: IBSP HGNC NCBI

Linked Data

dbSNP Id: rs1722167118
gnomAD v3: 4-87811354-C-G
gnomAD v4: 4-87811354-C-G
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.87811354C>G , CM000666.2:g.87811354C>G GRCh38
NC_000004.11:g.88732506C>G , CM000666.1:g.88732506C>G GRCh37
NC_000004.10:g.88951530C>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000226284.7:c.406-8C>G MANE Select ENSP00000226284.5:n.406-8C>G
ENST00000226284.6:c.406-8C>G ENSP00000226284.5:n.406-8C>G
NM_004967.3:c.406-8C>G NP_004958.2:n.406-8C>G
NM_004967.4:c.406-8C>G MANE Select NP_004958.2:n.406-8C>G
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