Canonical Allele Identifier: CA440295365
Gene: IBSP HGNC NCBI

Linked Data

dbSNP Id: rs1722167281
gnomAD v3: 4-87811364-T-G
gnomAD v4: 4-87811364-T-G
MyVariant Identifiers: chr4:g.88732516T>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.87811364T>G , CM000666.2:g.87811364T>G GRCh38
NC_000004.11:g.88732516T>G , CM000666.1:g.88732516T>G GRCh37
NC_000004.10:g.88951540T>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000226284.7:c.408T>G MANE Select ENSP00000226284.5:p.Ala136=
ENST00000226284.6:c.408T>G ENSP00000226284.5:p.Ala136=
NM_004967.3:c.408T>G NP_004958.2:p.Ala136=
NM_004967.4:c.408T>G MANE Select NP_004958.2:p.Ala136=