Canonical Allele Identifier: CA288230
Gene: HOXB13 HGNC NCBI

Linked Data

ClinVar Variation Id: 128033
ClinVar RCV Id: RCV000115971 RCV000567230
dbSNP Id: rs587780162
ExAC: 17:46805520 C / T
gnomAD v2: 17-46805520-C-T
gnomAD v4: 17-48728158-C-T
MyVariant Identifiers: chr17:g.46805520C>T (hg19) chr17:g.48728158C>T (hg38)
PubMed: PMID:28272408
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.48728158C>T , CM000679.2:g.48728158C>T GRCh38
NC_000017.10:g.46805520C>T , CM000679.1:g.46805520C>T GRCh37
NC_000017.9:g.44160519C>T NCBI36
NG_033789.1:g.5592G>A , LRG_771:g.5592G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000290295.8:c.436G>A MANE Select ENSP00000290295.8:p.Val146Met
ENST00000290295.7:c.436G>A ENSP00000290295.7:p.Val146Met
NM_006361.5:c.436G>A , LRG_771t1:c.436G>A NP_006352.2:p.Val146Met
NM_006361.6:c.436G>A MANE Select NP_006352.2:p.Val146Met
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