Canonical Allele Identifier: CA8631797
Gene: HOXB1 HGNC NCBI
COSMIC:
COSM4985798 (not active)
MyVariant.info:
GRCh38 chr17:g.48530596T>A
GRCh37 chr17:g.46607958T>A
Revel Score:
ENST00000239174 (MANE Select) 0.359
gnomAD v2:
17:46607958 T / A
gnomAD v3:
17:48530596 T / A
gnomAD v4:
chr17-48530596-T-A
Joint Max Group AF 0.19497779 (NFE)
Genomes Max Group AF 0.19317762 (NFE)
Exomes Max Group AF 0.19493848 (NFE)
ClinVar RCV:
RCV001637730
ClinVar Variation:
1239766
dbSNP:
12939811
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.48530596T>A , CM000679.2:g.48530596T>A GRCh38
NC_000017.10:g.46607958T>A , CM000679.1:g.46607958T>A GRCh37
NC_000017.9:g.43962957T>A NCBI36
NG_032884.1:g.5315A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000239174.7:c.309A>T MANE Select ENSP00000355140.5:p.Gln103His
ENST00000239174.6:c.309A>T ENSP00000355140.5:p.Gln103His
ENST00000577092.1:c.309A>T ENSP00000459066.1:p.Gln103His
NM_002144.3:c.309A>T NP_002135.2:p.Gln103His
NM_002144.4:c.309A>T MANE Select NP_002135.2:p.Gln103His
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