Canonical Allele Identifier: CA299231

Gene: HOXB13

Linked Data

• ClinVar Variation Id: 182504
• ClinVar RCV Id: RCV000160507 ; RCV000574769 ; RCV001521292 ; RCV003315962 ; RCV003945254
• dbSNP Id: rs138675188
• ExAC: 17:46804272 C / T
• gnomAD v2: 17-46804272-C-T
• gnomAD v3: 17-48726910-C-T
• gnomAD v4: 17-48726910-C-T
• MyVariant Identifiers: chr17:g.46804272C>T (hg19) ; chr17:g.48726910C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.48726910C>T , CM000679.2:g.48726910C>T	GRCh38
NC_000017.10:g.46804272C>T , CM000679.1:g.46804272C>T	GRCh37
NC_000017.9:g.44159271C>T	NCBI36
NG_033789.1:g.6840G>A , LRG_771:g.6840G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000290295.8:c.735G>A MANE Select	ENSP00000290295.8:p.Lys245=
ENST00000290295.7:c.735G>A	ENSP00000290295.7:p.Lys245=
NM_006361.5:c.735G>A , LRG_771t1:c.735G>A	NP_006352.2:p.Lys245=
NM_006361.6:c.735G>A MANE Select	NP_006352.2:p.Lys245=