Canonical Allele Identifier: CA8633906

Gene: HOXB13

Linked Data

• ClinVar Variation Id: 483500
• ClinVar RCV Id: RCV000572382 ; RCV001368332
• dbSNP Id: rs748782183
• ExAC: 17:46804204 C / T
• gnomAD v2: 17-46804204-C-T
• gnomAD v3: 17-48726842-C-T
• gnomAD v4: 17-48726842-C-T
• MyVariant Identifiers: chr17:g.46804204C>T (hg19) ; chr17:g.48726842C>T (hg38)
• PubMed: PMID:27424772

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.48726842C>T , CM000679.2:g.48726842C>T	GRCh38
NC_000017.10:g.46804204C>T , CM000679.1:g.46804204C>T	GRCh37
NC_000017.9:g.44159203C>T	NCBI36
NG_033789.1:g.6908G>A , LRG_771:g.6908G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000290295.8:c.803G>A MANE Select	ENSP00000290295.8:p.Arg268Gln
ENST00000290295.7:c.803G>A	ENSP00000290295.7:p.Arg268Gln
NM_006361.5:c.803G>A , LRG_771t1:c.803G>A	NP_006352.2:p.Arg268Gln
NM_006361.6:c.803G>A MANE Select	NP_006352.2:p.Arg268Gln