Canonical Allele Identifier: CA129954
Gene: HOXB1 HGNC NCBI
MyVariant.info:
GRCh38 chr17:g.48529834G>A
GRCh37 chr17:g.46607196G>A
Revel Score:
ENST00000239174 (MANE Select) 0.966
gnomAD v2:
17:46607196 G / A
gnomAD v3:
17:48529834 G / A
gnomAD v4:
chr17-48529834-G-A
Joint Max Group AF 0.00000247 (NFE)
Exomes Max Group AF 0.00000195 (NFE)
ClinVar RCV:
RCV000029225
ClinVar Variation:
35567
dbSNP:
387907239
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.48529834G>A , CM000679.2:g.48529834G>A GRCh38
NC_000017.10:g.46607196G>A , CM000679.1:g.46607196G>A GRCh37
NC_000017.9:g.43962195G>A NCBI36
NG_032884.1:g.6077C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000239174.7:c.619C>T MANE Select ENSP00000355140.5:p.Arg207Cys
ENST00000239174.6:c.619C>T ENSP00000355140.5:p.Arg207Cys
ENST00000577092.1:c.*372C>T ENSP00000459066.1:n.*372C>T
NM_002144.3:c.619C>T NP_002135.2:p.Arg207Cys
NM_002144.4:c.619C>T MANE Select NP_002135.2:p.Arg207Cys
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