Canonical Allele Identifier: CA8631683
Gene: HOXB1 HGNC NCBI

Linked Data

ClinVar Variation Id: 701967
ClinVar RCV Id: RCV000870749
dbSNP Id: rs35115415
ExAC: 17:46607113 C / T
gnomAD v2: 17-46607113-C-T
gnomAD v3: 17-48529751-C-T
gnomAD v4: 17-48529751-C-T
MyVariant Identifiers: chr17:g.46607113C>T (hg19) chr17:g.48529751C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.48529751C>T , CM000679.2:g.48529751C>T GRCh38
NC_000017.10:g.46607113C>T , CM000679.1:g.46607113C>T GRCh37
NC_000017.9:g.43962112C>T NCBI36
NG_032884.1:g.6160G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000239174.7:c.702G>A MANE Select ENSP00000355140.5:p.Val234=
ENST00000239174.6:c.702G>A ENSP00000355140.5:p.Val234=
ENST00000577092.1:c.*455G>A ENSP00000459066.1:n.*455G>A
NM_002144.3:c.702G>A NP_002135.2:p.Val234=
NM_002144.4:c.702G>A MANE Select NP_002135.2:p.Val234=
Search 100 bp 5'
Search 100 bp 3'