Canonical Allele Identifier: CA100855534
Gene: IBSP HGNC NCBI

Linked Data

dbSNP Id: rs373732829
gnomAD v2: 4-88732501-C-T
gnomAD v3: 4-87811349-C-T
gnomAD v4: 4-87811349-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.87811349C>T , CM000666.2:g.87811349C>T GRCh38
NC_000004.11:g.88732501C>T , CM000666.1:g.88732501C>T GRCh37
NC_000004.10:g.88951525C>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000226284.7:c.406-13C>T MANE Select ENSP00000226284.5:n.406-13C>T
ENST00000226284.6:c.406-13C>T ENSP00000226284.5:n.406-13C>T
NM_004967.3:c.406-13C>T NP_004958.2:n.406-13C>T
NM_004967.4:c.406-13C>T MANE Select NP_004958.2:n.406-13C>T