Canonical Allele Identifier: CA14405304
Gene: HOXB5 HGNC NCBI
HOXB3 HGNC NCBI
HOXB-AS3 HGNC NCBI
MyVariant.info:
GRCh38 chr17:g.48592068C>T
GRCh37 chr17:g.46669430C>T
gnomAD v2:
17:46669430 C / T
gnomAD v3:
17:48592068 C / T
gnomAD v4:
chr17-48592068-C-T
Joint Max Group AF 0.64732383 (NFE)
Genomes Max Group AF 0.64398394 (NFE)
Exomes Max Group AF 0.64721324 (NFE)
dbSNP:
9299
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.48592068C>T , CM000679.2:g.48592068C>T GRCh38
NC_000017.10:g.46669430C>T , CM000679.1:g.46669430C>T GRCh37
NC_000017.9:g.44024429C>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000239151.6:c.*141G>A (HOXB5) MANE Select ENSP00000239151.4:n.*141G>A
ENST00000239151.5:c.*141G>A (HOXB5) ENSP00000239151.4:n.*141G>A
ENST00000552000.2:n.433+12412G>A (HOXB3)
NM_002147.3:c.*141G>A (HOXB5) NP_002138.1:n.*141G>A
NR_033201.2:n.170+1479C>T (HOXB-AS3)
NR_033202.2:n.170+1479C>T (HOXB-AS3)
NR_110331.1:n.170+1479C>T (HOXB-AS3)
NM_002147.4:c.*141G>A (HOXB5) MANE Select NP_002138.1:n.*141G>A
Search 100 bp 5'
Search 100 bp 3'