Canonical Allele Identifier: CA288225

Gene: HOXB13

Linked Data

• ClinVar Variation Id: 128031
• ClinVar RCV Id: RCV000210093 ; RCV000229815 ; RCV000561749 ; RCV000714291 ; RCV001582580 ; RCV004549575 ; RCV003492500 ; RCV001391199 ; RCV003335105
• dbSNP Id: rs138213197
• ExAC: 17:46805705 C / T
• gnomAD v2: 17-46805705-C-T
• gnomAD v3: 17-48728343-C-T
• gnomAD v4: 17-48728343-C-T
• COSMIC: COSM3889825
• MyVariant Identifiers: chr17:g.46805705C>T (hg19) ; chr17:g.48728343C>T (hg38)
• CIViC: CA288225
• PubMed: PMID:8756292 ; PMID:15964834 ; PMID:17138648 ; PMID:22236224 ; PMID:22853031 ; PMID:23064873 ; PMID:25206306 ; PMID:26845104 ; PMID:27153395 ; PMID:27424772 ; PMID:27902461 ; PMID:28050579 ; PMID:28798948

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.48728343C>T , CM000679.2:g.48728343C>T	GRCh38
NC_000017.10:g.46805705C>T , CM000679.1:g.46805705C>T	GRCh37
NC_000017.9:g.44160704C>T	NCBI36
NG_033789.1:g.5407G>A , LRG_771:g.5407G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000290295.8:c.251G>A MANE Select	ENSP00000290295.8:p.Gly84Glu
ENST00000290295.7:c.251G>A	ENSP00000290295.7:p.Gly84Glu
NM_006361.5:c.251G>A , LRG_771t1:c.251G>A	NP_006352.2:p.Gly84Glu
NM_006361.6:c.251G>A MANE Select	NP_006352.2:p.Gly84Glu