Canonical Allele Identifier: CA4195993
Gene: HOXA1 HGNC NCBI
COSMIC:
COSM4162117 (not active)
MyVariant.info:
GRCh38 chr7:g.27095695C>T
GRCh37 chr7:g.27135314C>T
Revel Score:
ENST00000343060 0.026
ENST00000355633 0.026
gnomAD v2:
7:27135314 C / T
gnomAD v3:
7:27095695 C / T
gnomAD v4:
chr7-27095695-C-T
Joint Max Group AF 0.93089101 (EAS)
Genomes Max Group AF 0.95621029 (EAS)
Exomes Max Group AF 0.9251006 (EAS)
ClinVar RCV:
RCV000391664
ClinVar Variation:
369585
dbSNP:
10951154
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.27095695C>T , CM000669.2:g.27095695C>T GRCh38
NC_000007.13:g.27135314C>T , CM000669.1:g.27135314C>T GRCh37
NC_000007.12:g.27101839C>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000643460.2:c.218G>A MANE Select ENSP00000494260.2:p.Arg73His
ENST00000343060.4:c.218G>A ENSP00000343246.4:p.Arg73His
ENST00000355633.5:c.218G>A ENSP00000347851.5:p.Arg73His
NM_005522.5:c.218G>A MANE Select NP_005513.2:p.Arg73His
NM_153620.3:c.218G>A NP_705873.3:p.Arg73His
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