Canonical Allele Identifier: CA357620702
Gene: IBSP HGNC NCBI

Linked Data

dbSNP Id: rs1560528389
gnomAD v4: 4-87811461-G-T
MyVariant Identifiers: chr4:g.88732613G>T (hg19) chr4:g.87811461G>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.87811461G>T , CM000666.2:g.87811461G>T GRCh38
NC_000004.11:g.88732613G>T , CM000666.1:g.88732613G>T GRCh37
NC_000004.10:g.88951637G>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000226284.7:c.505G>T MANE Select ENSP00000226284.5:p.Val169Leu
ENST00000226284.6:c.505G>T ENSP00000226284.5:p.Val169Leu
NM_004967.3:c.505G>T NP_004958.2:p.Val169Leu
NM_004967.4:c.505G>T MANE Select NP_004958.2:p.Val169Leu
Search 100 bp 5'
Search 100 bp 3'