Canonical Allele Identifier: CA8633933

Gene: HOXB13

Linked Data

• ClinVar Variation Id: 483473
• ClinVar RCV Id: RCV000566240 ; RCV001054088
• dbSNP Id: rs139475791
• ExAC: 17:46804358 G / A
• gnomAD v2: 17-46804358-G-A
• gnomAD v3: 17-48726996-G-A
• gnomAD v4: 17-48726996-G-A
• MyVariant Identifiers: chr17:g.46804358G>A (hg19) ; chr17:g.48726996G>A (hg38)
• PubMed: PMID:23064873 ; PMID:27424772

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.48726996G>A , CM000679.2:g.48726996G>A	GRCh38
NC_000017.10:g.46804358G>A , CM000679.1:g.46804358G>A	GRCh37
NC_000017.9:g.44159357G>A	NCBI36
NG_033789.1:g.6754C>T , LRG_771:g.6754C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000290295.8:c.649C>T MANE Select	ENSP00000290295.8:p.Arg217Cys
ENST00000290295.7:c.649C>T	ENSP00000290295.7:p.Arg217Cys
NM_006361.5:c.649C>T , LRG_771t1:c.649C>T	NP_006352.2:p.Arg217Cys
NM_006361.6:c.649C>T MANE Select	NP_006352.2:p.Arg217Cys