Canonical Allele Identifier: CA400105644

Gene: HOXB13

Linked Data

• ClinVar Variation Id: 691205
• ClinVar RCV Id: RCV000856508 ; RCV002298793
• dbSNP Id: rs1291038862
• gnomAD v4: 17-48726850-C-A
• MyVariant Identifiers: chr17:g.46804212C>A (hg19) ; chr17:g.48726850C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.48726850C>A , CM000679.2:g.48726850C>A	GRCh38
NC_000017.10:g.46804212C>A , CM000679.1:g.46804212C>A	GRCh37
NC_000017.9:g.44159211C>A	NCBI36
NG_033789.1:g.6900G>T , LRG_771:g.6900G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000290295.8:c.795G>T MANE Select	ENSP00000290295.8:p.Gln265His
ENST00000290295.7:c.795G>T	ENSP00000290295.7:p.Gln265His
NM_006361.5:c.795G>T , LRG_771t1:c.795G>T	NP_006352.2:p.Gln265His
NM_006361.6:c.795G>T MANE Select	NP_006352.2:p.Gln265His