Canonical Allele Identifier: CA203964
Gene: HOGA1 HGNC NCBI
MyVariant.info:
GRCh38 chr10:g.97611514C>T
GRCh37 chr10:g.99371271C>T
Revel Score:
ENST00000370647 0.781
ENST00000370646 (MANE Select) 0.781
gnomAD v2:
10:99371271 C / T
gnomAD v3:
10:97611514 C / T
gnomAD v4:
chr10-97611514-C-T
Joint Max Group AF 2.8e-7 (NFE)
ClinVar RCV:
RCV000186484
ClinVar Variation:
204277
dbSNP:
756489804
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.97611514C>T , CM000672.2:g.97611514C>T GRCh38
NC_000010.10:g.99371271C>T , CM000672.1:g.99371271C>T GRCh37
NC_000010.9:g.99361261C>T NCBI36
NG_027922.1:g.32170C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000370646.9:c.839C>T MANE Select ENSP00000359680.4:p.Thr280Ile
ENST00000370646.8:c.839C>T ENSP00000359680.4:p.Thr280Ile
ENST00000370647.8:c.350C>T ENSP00000359681.4:p.Thr117Ile
ENST00000370649.3:c.345+9524C>T ENSP00000359683.3:n.345+9524C>T
NM_001134670.1:c.350C>T NP_001128142.1:p.Thr117Ile
NM_138413.3:c.839C>T NP_612422.2:p.Thr280Ile
NM_138413.4:c.839C>T MANE Select NP_612422.2:p.Thr280Ile
NM_001134670.2:c.350C>T NP_001128142.1:p.Thr117Ile
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