Canonical Allele Identifier: CA500661894
Gene: HOXB13 HGNC NCBI

Linked Data

ClinVar Variation Id: 690714
ClinVar RCV Id: RCV002453931 RCV002536181
dbSNP Id: rs1597934464
gnomAD v4: 17-48728258-C-T
COSMIC: COSM4429785
MyVariant Identifiers: chr17:g.46805620C>T (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.48728258C>T , CM000679.2:g.48728258C>T GRCh38
NC_000017.10:g.46805620C>T , CM000679.1:g.46805620C>T GRCh37
NC_000017.9:g.44160619C>T NCBI36
NG_033789.1:g.5492G>A , LRG_771:g.5492G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000290295.8:c.336G>A MANE Select ENSP00000290295.8:p.Glu112=
ENST00000290295.7:c.336G>A ENSP00000290295.7:p.Glu112=
NM_006361.5:c.336G>A , LRG_771t1:c.336G>A NP_006352.2:p.Glu112=
NM_006361.6:c.336G>A MANE Select NP_006352.2:p.Glu112=
Search 100 bp 5'
Search 100 bp 3'