Canonical Allele Identifier: CA2671363045
Gene: IBSP HGNC NCBI

Linked Data

gnomAD v4: 4-87811345-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.87811345C>T , CM000666.2:g.87811345C>T GRCh38
NC_000004.11:g.88732497C>T , CM000666.1:g.88732497C>T GRCh37
NC_000004.10:g.88951521C>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000226284.7:c.406-17C>T MANE Select ENSP00000226284.5:n.406-17C>T
ENST00000226284.6:c.406-17C>T ENSP00000226284.5:n.406-17C>T
NM_004967.3:c.406-17C>T NP_004958.2:n.406-17C>T
NM_004967.4:c.406-17C>T MANE Select NP_004958.2:n.406-17C>T