Canonical Allele Identifier: CA400105171

Gene: HOXB13

Linked Data

• ClinVar Variation Id: 1514664
• ClinVar RCV Id: RCV002029463 ; RCV003161242
• dbSNP Id: rs2143065098
• gnomAD v4: 17-48726800-G-A
• MyVariant Identifiers: chr17:g.46804162G>A (hg19) ; chr17:g.48726800G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.48726800G>A , CM000679.2:g.48726800G>A	GRCh38
NC_000017.10:g.46804162G>A , CM000679.1:g.46804162G>A	GRCh37
NC_000017.9:g.44159161G>A	NCBI36
NG_033789.1:g.6950C>T , LRG_771:g.6950C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000290295.8:c.845C>T MANE Select	ENSP00000290295.8:p.Ala282Val
ENST00000290295.7:c.845C>T	ENSP00000290295.7:p.Ala282Val
NM_006361.5:c.845C>T , LRG_771t1:c.845C>T	NP_006352.2:p.Ala282Val
NM_006361.6:c.845C>T MANE Select	NP_006352.2:p.Ala282Val